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1
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Yang G, Schock ME, Wall PW, Lu Y, Cui D. Bilateral Polycystic Kidney Disease and Inferior Vena Cava (IVC) Thrombosis: A Cadaveric Study. Cureus 2025; 17:e80765. [PMID: 40248555 PMCID: PMC12004418 DOI: 10.7759/cureus.80765] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 03/18/2025] [Indexed: 04/19/2025] Open
Abstract
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disease and one of the most common causes of end-stage kidney disease. The occurrence of bilateral polycystic kidney disease with liver cysts is uncommon. A case of bilateral polycystic kidney disease, found to have liver cysts and inferior vena cava thrombosis in a cadaveric study, is presented in this study. Dissection was performed on a 90-year-old Caucasian male cadaver. Both kidneys were enlarged and contained multiple cysts with normal renal tissue interposed. When comparing the two kidneys, the cysts on the left were notably larger. There was a partial absence of renal capsules. Additionally, a polycystic liver and an inferior vena cava filter were found during the dissection. The patient's history of venous thrombosis is indicated by the previously inserted inferior vena cava filter.
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Affiliation(s)
- Gongchao Yang
- Department of Advanced Biomedical Education, University of Mississippi Medical Center, Jackson, USA
| | - Morgan E Schock
- School of Medicine, University of Mississippi Medical Center, Jackson, USA
| | - Peyton W Wall
- School of Medicine, University of Mississippi Medical Center, Jackson, USA
| | - Yuefeng Lu
- Department of Advanced Biomedical Education, University of Mississippi Medical Center, Jackson, USA
| | - Dongmei Cui
- Department of Advanced Biomedical Education, University of Mississippi Medical Center, Jackson, USA
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2
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Akuzawa D, Uchida Y, Ishimura T, Kakita H, Endo T, Matsuzaki N, Terajima H, Tsukamoto T. Polycystic liver disease with lethal abdominal wall rupture: a case report. J Med Case Rep 2021; 15:421. [PMID: 34340688 PMCID: PMC8330095 DOI: 10.1186/s13256-021-02964-6] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/12/2020] [Accepted: 06/16/2021] [Indexed: 01/21/2023] Open
Abstract
Background Polycystic liver disease is a clinical feature of autosomal dominant polycystic kidney disease, and it can sometimes cause health damage more serious than polycystic kidney. Dialysis therapy can be used for renal failure, but liver transplantation is the only method available for liver failure. Thus, giant and multiple hepatic cysts may affect mortality. However, liver transplantation is not indicated in many cases because of the preserved liver function. Case presentation A 54-year-old Japanese woman with polycystic liver disease was transferred back to our hospital for abdominal pain caused by liver cyst infection with abdominal wall herniation. She had been diagnosed with polycystic liver disease associated with sporadic autosomal dominant polycystic kidney disease 25 years earlier. Although she had several surgical interventions to reduce her liver volume, including right hepatic lobectomy and fenestration for liver cysts in another hospital, she needed further repair of the recurrent incisional herniation with patch graft surgery using fascia lata to cover the herniation site. However, new herniation sites reemerged in the fragile abdominal wall area around the patch, and therefore, she reduced the recurrent abdominal wall herniation by herself. Recurrent intestinal obstructions were luckily released by fasting with decompression treatment via nasogastric tube insertion, but multiple skin ulcers around the enlarged hernia sac gradually developed, and ascites was extremely difficult to control with any medication. At final admission, her abdominal wall was even more prominent, causing shortness of breath, and it spontaneously ruptured many times, which was accompanied by discharge of around 5 liters of ascites each time. She died from sepsis caused by drug-resistant Enterococcus. Conclusions We report a case of autosomal dominant polycystic kidney disease with ruptured abdominal wall resulting from a hepatic cyst enlargement despite multiple laparotomy operations. Throughout the entire disease course, her liver volume increased rapidly, and her quality of life was severely impaired, but she could not undergo liver transplantation after readmission to our hospital. We will discuss the therapeutic strategy for this patient, including the timing and indication for liver transplantation.
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Affiliation(s)
- Daichi Akuzawa
- Department of Pediatrics, Tazuke Kofukai Medical Research Institute, Kitano Hospital, Osaka, Japan.,Department of Nephrology and Dialysis, Tazuke Kofukai Medical Research Institute, Kitano Hospital, 2-4-20 Ohgimachi, kita-ku, Osaka, 530-8480, Japan
| | - Yoichiro Uchida
- Department of Gastroenterological Surgery and Oncology, Tazuke Kofukai Medical Research Institute, Kitano Hospital, Osaka, Japan.,Division of Hepato-Biliary-Pancreatic Surgery and Transplantation, Department of Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan
| | - Takuya Ishimura
- Department of Nephrology and Dialysis, Tazuke Kofukai Medical Research Institute, Kitano Hospital, 2-4-20 Ohgimachi, kita-ku, Osaka, 530-8480, Japan.,Department of Nephrology, Graduate School of Medicine, Kyoto University, Kyoto, Japan
| | - Hiroko Kakita
- Department of Nephrology and Dialysis, Tazuke Kofukai Medical Research Institute, Kitano Hospital, 2-4-20 Ohgimachi, kita-ku, Osaka, 530-8480, Japan
| | - Tomomi Endo
- Department of Nephrology and Dialysis, Tazuke Kofukai Medical Research Institute, Kitano Hospital, 2-4-20 Ohgimachi, kita-ku, Osaka, 530-8480, Japan
| | - Naomi Matsuzaki
- Department of Pathology, Tazuke Kofukai Medical Research Institute, Kitano Hospital, Osaka, Japan.,Department of Pathology, Tenri Hospital, Nara, Japan
| | - Hiroaki Terajima
- Department of Gastroenterological Surgery and Oncology, Tazuke Kofukai Medical Research Institute, Kitano Hospital, Osaka, Japan
| | - Tatsuo Tsukamoto
- Department of Nephrology and Dialysis, Tazuke Kofukai Medical Research Institute, Kitano Hospital, 2-4-20 Ohgimachi, kita-ku, Osaka, 530-8480, Japan.
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3
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Suwabe T, Chamberlain AM, Killian JM, King BF, Gregory AV, Madsen CD, Wang X, Kline TL, Chebib FT, Hogan MC, Kamath PS, Harris PC, Torres VE. Epidemiology of autosomal-dominant polycystic liver disease in Olmsted county. JHEP Rep 2020; 2:100166. [PMID: 33145487 PMCID: PMC7593615 DOI: 10.1016/j.jhepr.2020.100166] [Citation(s) in RCA: 16] [Impact Index Per Article: 3.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/10/2020] [Revised: 07/15/2020] [Accepted: 07/22/2020] [Indexed: 12/25/2022] Open
Abstract
Background & Aims Isolated autosomal-dominant polycystic liver disease (ADPLD) is generally considered a rare disease. However, the frequency of truncating mutations to ADPLD genes in large, population sequencing databases is 1:496. With the increasing use of abdominal imaging, incidental detection of hepatic cysts and ADPLD has become more frequent. The present study was performed to ascertain the incidence and point prevalence of ADPLD in Olmsted County, MN, USA, and how these are impacted by the increasing utilisation of abdominal imaging. Methods The Rochester Epidemiology Project and radiology databases of Mayo Clinic and Olmsted Medical Center were searched to identify all subjects meeting diagnostic criteria for definite, likely, or possible ADPLD. Annual incidence rates were calculated using incident cases during 1980–2016 as numerator, and age- and sex-specific estimates of the population of Olmsted County as denominator. Point prevalence was calculated using prevalence cases as numerator, and age- and sex-specific estimates of the population of Olmsted County on 1 January 2010 as denominator. Results The incidence rate and point prevalence of combined definite and likely ADPLD were 1.01 per 100,000 person-years and 9.5 per 100,000 population, respectively. Only 15 of 35 definite and likely incident ADPLD cases had received a diagnostic code, and only 8 had clinically significant hepatomegaly. The incidence rates were much higher when adding possible cases, mainly identified through radiology databases, particularly in recent years and in older patients because of the increased utilisation of imaging studies. Conclusions Clinically significant isolated ADPLD is a rare disease with a prevalence <1:10,000 population. The overall prevalence of ADPLD, however, to a large extent not clinically significant, is likely much higher and closer to the reported genetic prevalence. Lay summary Isolated autosomal-dominant polycystic liver disease (ADPLD) is generally considered a rare disease. However, we demonstrate that it is a relatively common disease, which is rarely (<1:10,000 population) clinically significant.
Isolated autosomal-dominant polycystic liver disease (ADPLD) is generally considered a rare disease. Truncating mutations to ADPLD genes are fairly common (1:496) in large, population sequencing databases. We identified 35 individuals meeting diagnostic criteria for definite or likely ADPLD and 99 additional patients with possible ADPLD. The point prevalence of definite or likely ADPLD on 01/01/2010 was 9.5/100,000 or 36.0/100,000 population if adding possible cases. Clinically significant isolated ADPLD is rare (<1:10,000 population), but the overall prevalence is likely much higher.
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Affiliation(s)
- Tatsuya Suwabe
- Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA
| | | | - Jill M Killian
- Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA
| | - Bernard F King
- Department of Radiology, Mayo Clinic, Rochester, MN, USA
| | - Adriana V Gregory
- Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA
| | - Charles D Madsen
- Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA
| | - Xiaofang Wang
- Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA
| | | | - Fouad T Chebib
- Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA
| | - Marie C Hogan
- Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA
| | - Patrick S Kamath
- Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN, USA
| | - Peter C Harris
- Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA
| | - Vicente E Torres
- Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA
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Abstract
Congenital and hereditary cystic lesions of the abdomen are relatively rare. Correct diagnosis is critical as they may simulate several other benign and malignant acquired diseases of the abdomen. With the correct and appropriate use of imaging, diagnosis may be relatively straightforward and clinical management may be implemented appropriately. The purpose of this article is to describe imaging findings of common and uncommon congenital and hereditary cystic disease of the abdominal organs.
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5
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Pandita S, Ramachandran V, Balakrishnan P, Rolfs A, Brandau O, Eichler S, Bhalla AK, Khullar D, Amitabh V, Ramanarayanan S, Kher V, Verma J, Kohli S, Saxena R, Verma IC. Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD. J Hum Genet 2019; 64:409-419. [PMID: 30816285 DOI: 10.1038/s10038-019-0582-8] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/17/2018] [Revised: 02/10/2019] [Accepted: 02/10/2019] [Indexed: 11/09/2022]
Abstract
Autosomal Dominant Polycystic Kidney Disease (ADPKD) accounts for 2.6% of the patients with chronic kidney disease in India. ADPKD is caused by pathogenic variants in either PKD1 or PKD2 gene. There is no comprehensive genetic data from Indian subcontinent. We aimed to identify the pathogenic variants in the heterogeneous Indian population. PKD1 and PKD2 variants were identified by direct gene sequencing and/or multiplex ligation-dependent probe amplification (MLPA) in 125 unrelated patients of ADPKD. The pathogenic potential of the variants was evaluated computationally and were classified according to ACMG guidelines. Overall 300 variants were observed in PKD1 and PKD2 genes, of which 141 (47%) have been reported previously as benign. The remaining 159 variants were categorized into different classes based on their pathogenicity. Pathogenic variants were observed in 105 (84%) of 125 patients, of which 99 (94.3%) were linked to PKD1 gene and 6 (6.1%) to PKD2 gene. Of 159 variants, 97 were novel variants, of which 43 (44.33%) were pathogenic, and 10 (10.31%) were of uncertain significance. Our data demonstrate the diverse genotypic makeup of single gene disorders in India as compared to the West. These data would be valuable in counseling and further identification of probable donors among the relatives of patients with ADPKD.
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Affiliation(s)
- Shewata Pandita
- Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
- Guru Gobind Singh Indraprastha University, Dwarka, New Delhi, India.
| | - Vijaya Ramachandran
- Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
- South West Thames Regional Genetics Laboratory, St. George's University Hospitals NHS Foundation Trust, London, SW17 0QT, UK
| | - Prahlad Balakrishnan
- Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
| | | | | | | | - Anil Kumar Bhalla
- Institute of Renal Sciences, Sir Ganga Ram Hospital, New Delhi, India
| | - Dinesh Khullar
- Department of Nephrology & Renal Transplant Medicine, Max Super Speciality Hospital, New Delhi, India
| | - Vindu Amitabh
- Department of Nephrology, Safdarjung Hospital, New Delhi, India
| | - Sivaramakrishnan Ramanarayanan
- Department of Nephrology, PGIMER-Dr Ram Manohar Lohia Hospital, Delhi, India
- Division of Nephrology & Renal Transplant Medicine, Fortis Escorts, New Delhi, India
| | - Vijay Kher
- Division of Nephrology & Renal Transplant Medicine, Fortis Escorts, New Delhi, India
| | - Jyotsna Verma
- Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
| | - Sudha Kohli
- Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
| | - Renu Saxena
- Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
| | - Ishwar Chander Verma
- Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
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6
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Ding F, Tang H, Zhao H, Feng X, Yang Y, Chen GH, Chen WJ, Xu C. Long-term results of liver transplantation for polycystic liver disease: Single-center experience in China. Exp Ther Med 2019; 17:4183-4189. [PMID: 31007749 DOI: 10.3892/etm.2019.7449] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/29/2018] [Accepted: 02/15/2019] [Indexed: 11/06/2022] Open
Abstract
The aim of the present study was to explore the indications for and safety of orthotopic liver transplantation for polycystic liver disease (PLD). Orthotopic liver transplantation in 11 patients with PLD between May 2004 and September 2013 was retrospectively analyzed. Patient epidemiological, clinical and follow-up data were collected. The survival rate was calculated using the Kaplan-Meier method. Over the 10-year period, 11 patients received orthotopic liver transplantation (n=9) and combined liver-kidney transplantation (n=2) for PLD. The recipients' median age was 56 years [(interquartile range (IQR), 52-57 years], and 7 of the patients (63.6%) were classified as having Gigot type II PLD and 4 (36.4%) as having Gigot type III. A total of 8 (72.7%) patients had a severely decreased quality of life (Eastern Cooperative Oncology Group performance status score, ≥3). Only 3 cases (27.3%) were of Class C stage. The mean hospitalization duration was 45.4±15.3 days and the mean length of stay at the intensive care unit was 4.1±1.9 days. The peri-operative mortality was 18.2% and the morbidity was 54.5%. The median follow-up period was 111 months (IQR, 33-132 months). A total of 2 patients died of severe complications after combined liver-kidney transplantation. Furthermore, 1 patient died of ischemia cholangitis during the follow-up period. The actuarial 1-, 5- and 10-year survival rate during the follow-up period was 81.8, 81.8 and 65.5%, respectively. The mean physical component summary score was 87.1±6.9 and the mean mental component summary score was 81.5±6.4. In conclusion, liver transplantation is the only curative procedure for PLD, and the present study indicated that it is relatively and safe and leads to good long-term prognosis and high quality of life. Based on our experience and results, liver transplantation is a primary option for cases of PLD with progressive or advanced symptomatic disease where previous other forms of therapy to palliate symptoms have been insufficient.
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Affiliation(s)
- Fan Ding
- Department of Hepatic Surgery and Liver Transplantation Center, The Third Affiliated Hospital, Sun Yat-Sen University, Guangzhou, Guangdong 510630, P.R. China.,Organ Transplantation Institute, Sun Yat-Sen University, Guangzhou, Guangdong 510080, P.R. China
| | - Hui Tang
- Department of Hepatic Surgery and Liver Transplantation Center, The Third Affiliated Hospital, Sun Yat-Sen University, Guangzhou, Guangdong 510630, P.R. China.,Organ Transplantation Institute, Sun Yat-Sen University, Guangzhou, Guangdong 510080, P.R. China
| | - Hui Zhao
- Department of Hepatic Surgery and Liver Transplantation Center, The Third Affiliated Hospital, Sun Yat-Sen University, Guangzhou, Guangdong 510630, P.R. China.,Organ Transplantation Institute, Sun Yat-Sen University, Guangzhou, Guangdong 510080, P.R. China
| | - Xiao Feng
- Department of Hepatic Surgery and Liver Transplantation Center, The Third Affiliated Hospital, Sun Yat-Sen University, Guangzhou, Guangdong 510630, P.R. China.,Organ Transplantation Institute, Sun Yat-Sen University, Guangzhou, Guangdong 510080, P.R. China
| | - Yang Yang
- Department of Hepatic Surgery and Liver Transplantation Center, The Third Affiliated Hospital, Sun Yat-Sen University, Guangzhou, Guangdong 510630, P.R. China.,Organ Transplantation Institute, Sun Yat-Sen University, Guangzhou, Guangdong 510080, P.R. China
| | - Gui-Hua Chen
- Department of Hepatic Surgery and Liver Transplantation Center, The Third Affiliated Hospital, Sun Yat-Sen University, Guangzhou, Guangdong 510630, P.R. China.,Organ Transplantation Institute, Sun Yat-Sen University, Guangzhou, Guangdong 510080, P.R. China
| | - Wen-Jie Chen
- Department of Biological Treatment Center, The Third Affiliated Hospital, Sun Yat-Sen University, Guangzhou, Guangdong 510630, P.R. China
| | - Chi Xu
- Department of Hepatic Surgery and Liver Transplantation Center, The Third Affiliated Hospital, Sun Yat-Sen University, Guangzhou, Guangdong 510630, P.R. China.,Organ Transplantation Institute, Sun Yat-Sen University, Guangzhou, Guangdong 510080, P.R. China
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Abstract
Cystic hepatic lesions are commonly encountered in daily practice. The diagnosis of these lesions ranges from benign lesions of no clinical significance to malignant and potentially lethal conditions. The prevalence of hepatic cyst (HC) has been reported to be as high as 15-18% in the United States. Imaging with conventional ultrasound, computed tomography, magnetic resonance imaging, or contrast-enhanced ultrasound can be used to characterize further and diagnose. The pre-test probability of a diagnosis is highly affected by the patient's comorbidities and the clinical and laboratory data; thus, imaging studies should be interpreted in the context of the other clinical information for that particular patient. Treatment modalities for hepatic cyst include fenestration, aspiration sclerotherapy, or surgical resection. In the current review, we discuss the pathophysiology, diagnosis, and treatment modalities for various cystic hepatic lesions.
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Liver Transplant for Unusually Large Polycystic Liver Disease: Challenges and Pitfalls. Case Rep Transplant 2018; 2018:4863187. [PMID: 29487756 PMCID: PMC5816892 DOI: 10.1155/2018/4863187] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/06/2017] [Accepted: 01/04/2018] [Indexed: 01/24/2023] Open
Abstract
Patients with polycystic liver disease are described in the literature as both recipient and donor for liver transplant. Due to well-preserved liver function, it is often difficult for these patients to receive an organ. Livers of these patients are often large and heavier than a normal organ. We describe two cases who had exceedingly large livers, weighing 14 and 19 kg. To the best of our knowledge and search, these are some of the heaviest explanted livers, and one of the patients incidentally received a liver from a donor with ADPKD. The aim of this report is to discuss the challenges and pitfalls of evaluating and listing, technical aspect of the transplant, possibility of transplanting a liver from a donor with a genetic cystic disease to a cystic disease recipient, and the related literature with some highlights on the facts from UNOS/OPTN data.
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9
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Jiang L, Sun L, Edwards G, Manley M, Wallace DP, Septer S, Manohar C, Pritchard MT, Apte U. Increased YAP Activation Is Associated With Hepatic Cyst Epithelial Cell Proliferation in ARPKD/CHF. Gene Expr 2017; 17:313-326. [PMID: 28915934 PMCID: PMC5705408 DOI: 10.3727/105221617x15034976037343] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/13/2022]
Abstract
Autosomal recessive polycystic kidney disease/congenital hepatic fibrosis (ARPKD/CHF) is a rare but fatal genetic disease characterized by progressive cyst development in the kidneys and liver. Liver cysts arise from aberrantly proliferative cholangiocytes accompanied by pericystic fibrosis and inflammation. Yes-associated protein (YAP), the downstream effector of the Hippo signaling pathway, is implicated in human hepatic malignancies such as hepatocellular carcinoma, cholangiocarcinoma, and hepatoblastoma, but its role in hepatic cystogenesis in ARPKD/CHF is unknown. We studied the role of the YAP in hepatic cyst development using polycystic kidney (PCK) rats, an orthologous model of ARPKD, and in human ARPKD/CHF patients. The liver cyst wall epithelial cells (CWECs) in PCK rats were highly proliferative and exhibited expression of YAP. There was increased expression of YAP target genes, Ccnd1 (cyclin D1) and Ctgf (connective tissue growth factor), in PCK rat livers. Extensive expression of YAP and its target genes was also detected in human ARPKD/CHF liver samples. Finally, pharmacological inhibition of YAP activity with verteporfin and short hairpin (sh) RNA-mediated knockdown of YAP expression in isolated liver CWECs significantly reduced their proliferation. These data indicate that increased YAP activity, possibly through dysregulation of the Hippo signaling pathway, is associated with hepatic cyst growth in ARPKD/CHF.
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Affiliation(s)
- Lu Jiang
- *Department of Pharmacology, Toxicology and Therapeutics, University of Kansas Medical Center, Kansas City, KS, USA
| | - Lina Sun
- *Department of Pharmacology, Toxicology and Therapeutics, University of Kansas Medical Center, Kansas City, KS, USA
| | - Genea Edwards
- *Department of Pharmacology, Toxicology and Therapeutics, University of Kansas Medical Center, Kansas City, KS, USA
| | - Michael Manley
- *Department of Pharmacology, Toxicology and Therapeutics, University of Kansas Medical Center, Kansas City, KS, USA
| | - Darren P. Wallace
- †Department of Internal Medicine, University of Kansas Medical Center, Kansas City, KS, USA
- ‡The Jared Grantham Kidney Institute, University of Kansas Medical Center, Kansas City, KS, USA
| | - Seth Septer
- §Department of Gastroenterology, Children’s Mercy Hospital, Kansas City, KS, USA
| | - Chirag Manohar
- *Department of Pharmacology, Toxicology and Therapeutics, University of Kansas Medical Center, Kansas City, KS, USA
| | - Michele T. Pritchard
- *Department of Pharmacology, Toxicology and Therapeutics, University of Kansas Medical Center, Kansas City, KS, USA
- ‡The Jared Grantham Kidney Institute, University of Kansas Medical Center, Kansas City, KS, USA
| | - Udayan Apte
- *Department of Pharmacology, Toxicology and Therapeutics, University of Kansas Medical Center, Kansas City, KS, USA
- ‡The Jared Grantham Kidney Institute, University of Kansas Medical Center, Kansas City, KS, USA
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10
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Pham DH, Zhang C, Yin C. Using zebrafish to model liver diseases-Where do we stand? CURRENT PATHOBIOLOGY REPORTS 2017; 5:207-221. [PMID: 29098121 DOI: 10.1007/s40139-017-0141-y] [Citation(s) in RCA: 32] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 02/08/2023]
Abstract
Purpose of Review The liver is the largest internal organ and performs both exocrine and endocrine function that is necessary for survival. Liver failure is among the leading causes of death and represents a major global health burden. Liver transplantation is the only effective treatment for end-stage liver diseases. Animal models advance our understanding of liver disease etiology and hold promise for the development of alternative therapies. Zebrafish has become an increasingly popular system for modeling liver diseases and complements the rodent models. Recent Findings The zebrafish liver contains main cell types that are found in mammalian liver and exhibits similar pathogenic responses to environmental insults and genetic mutations. Zebrafish have been used to model neonatal cholestasis, cholangiopathies, such as polycystic liver disease, alcoholic liver disease, and non-alcoholic fatty liver disease. It also provides a unique opportunity to study the plasticity of liver parenchymal cells during regeneration. Summary In this review, we summarize the recent work of building zebrafish models of liver diseases. We highlight how these studies have brought new knowledge of disease mechanisms. We also discuss the advantages and challenges of using zebrafish to model liver diseases.
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Affiliation(s)
- Duc-Hung Pham
- Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, 45229, USA
| | - Changwen Zhang
- Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, 45229, USA
| | - Chunyue Yin
- Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, 45229, USA.,Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, 45229, USA
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11
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Wijnands TFM, Ronot M, Gevers TJG, Benzimra J, Kool LJS, Vilgrain V, Drenth JPH. Predictors of treatment response following aspiration sclerotherapy of hepatic cysts: an international pooled analysis of individual patient data. Eur Radiol 2017; 27:741-748. [PMID: 27180184 PMCID: PMC5209423 DOI: 10.1007/s00330-016-4363-x] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/17/2015] [Revised: 02/29/2016] [Accepted: 04/11/2016] [Indexed: 12/13/2022]
Abstract
OBJECTIVES To identify predictive variables of treatment response following aspiration sclerotherapy of large symptomatic hepatic cysts. METHODS We collected individual patient data from two tertiary referral centres and included all patients treated with aspiration sclerotherapy of a large (>5 cm), symptomatic hepatic cyst. At six months, clinical response was defined as complete or incomplete. Secondary, suboptimal technical response was defined as lower quartile of cyst reduction. Predictive variables of clinical and technical response were analyzed by logistic regression analysis. RESULTS We included 86 patients (58 ± 10 years; female 90 %). Complete clinical response rate was 55 %. Median cyst diameter and volume reduction were 71 % (IQR 50-87 %) and 98 % (IRQ 88-100 %), respectively. Patients with complete clinical response had a significantly higher cyst reduction compared to incomplete responders (OR 1.02, 95 % CI 1.00-1.04). Aspiration of haemorrhagic cyst fluid (OR 4.39, 95 % CI 1.34-14.39) or a lower cyst reduction at one month (OR 1.06, 95 % CI 1.02-1.10) was associated with a suboptimal technical response at six months. CONCLUSION Complete clinical response is associated with effective cyst reduction. Aspiration of haemorrhagic cyst fluid or a restricted diameter reduction at one month predicts a suboptimal technical treatment response, however, these variables did not predict symptom disappearance. KEY POINTS • Aspiration sclerotherapy of hepatic cysts shows excellent clinical and technical efficacy. • Optimal clinical responders have a markedly higher cyst reduction. • Haemorrhagic aspirate and a strong fluid reaccumulation predict suboptimal cyst reduction.
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Affiliation(s)
- Titus F M Wijnands
- Department of Gastroenterology and Hepatology, Radboud University Medical Center, P.O. Box 9101, code 455, 6500 HB, Nijmegen, The Netherlands
| | - Maxime Ronot
- Department of Radiology, Beaujon University Hospitals Paris Nord Val de Seine, Clichy, France
| | - Tom J G Gevers
- Department of Gastroenterology and Hepatology, Radboud University Medical Center, P.O. Box 9101, code 455, 6500 HB, Nijmegen, The Netherlands
| | - Julie Benzimra
- Department of Radiology, Beaujon University Hospitals Paris Nord Val de Seine, Clichy, France
| | - Leo J Schultze Kool
- Department of Radiology, Radboud University Medical Center, Nijmegen, The Netherlands
| | - Valérie Vilgrain
- Department of Radiology, Beaujon University Hospitals Paris Nord Val de Seine, Clichy, France
| | - Joost P H Drenth
- Department of Gastroenterology and Hepatology, Radboud University Medical Center, P.O. Box 9101, code 455, 6500 HB, Nijmegen, The Netherlands.
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Chebib FT, Jung Y, Heyer CM, Irazabal MV, Hogan MC, Harris PC, Torres VE, El-Zoghby ZM. Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 2016; 31:952-60. [PMID: 26932689 DOI: 10.1093/ndt/gfw008] [Citation(s) in RCA: 50] [Impact Index Per Article: 5.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/20/2015] [Accepted: 01/07/2016] [Indexed: 12/30/2022] Open
Abstract
BACKGROUND The autosomal dominant polycystic kidney disease (APDKD) genotype influences renal phenotype severity but its effect on polycystic liver disease (PLD) is unknown. Here we analyzed the influence of genotype on liver phenotype severity. METHODS Clinical data were retrieved from electronic records of patients who were mutation screened with the available liver imaging (n = 434). Liver volumes were measured by stereology (axial or coronal images) and adjusted to height (HtLV). RESULTS Among the patients included, 221 (50.9%) had truncating PKD1 (PKD1-T), 141 (32.5%) nontruncating PKD1 (PKD1-NT) and 72 (16.6%) PKD2 mutations. Compared with PKD1-NT and PKD2, patients with PKD1-T had greater height-adjusted total kidney volumes (799 versus 610 and 549 mL/m; P < 0.001). HtLV was not different (1042, 1095 and 1058 mL/m; P = 0.64) between the three groups, but females had greater HtLVs compared with males (1114 versus 1015 mL/m; P < 0.001). Annualized median liver growth rates were 1.68, 1.5 and 1.24% for PKD1-T, PKD1-NT and PKD2 mutations, respectively (P = 0.49), and remained unaffected by the ADPKD genotype when adjusted for age, gender and baseline HtLV. Females <48 years of age had higher annualized growth rates compared with those who were older (2.65 versus 0.09%; P < 0.001). After age 48 years, 58% of females with severe PLD had regression of HtLV, while HtLV continued to increase in males. CONCLUSIONS In contrast to the renal phenotype, the ADPKD genotype was not associated with the severity or growth rate of PLD in ADKPD patients. This finding, along with gender influence, indicates that modifiers beyond the disease gene significantly influence the liver phenotype.
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Affiliation(s)
- Fouad T Chebib
- Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN, USA
| | - Yeonsoon Jung
- Division of Nephrology, Kosin University College of Medicine, Busan, South Korea
| | - Christina M Heyer
- Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN, USA
| | - Maria V Irazabal
- Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN, USA
| | - Marie C Hogan
- Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN, USA
| | - Peter C Harris
- Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN, USA
| | - Vicente E Torres
- Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN, USA
| | - Ziad M El-Zoghby
- Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN, USA
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Chebib FT, Harmon A, Irazabal Mira MV, Jung YS, Edwards ME, Hogan MC, Kamath PS, Torres VE, Nagorney DM. Outcomes and Durability of Hepatic Reduction after Combined Partial Hepatectomy and Cyst Fenestration for Massive Polycystic Liver Disease. J Am Coll Surg 2016; 223:118-126.e1. [PMID: 27016902 DOI: 10.1016/j.jamcollsurg.2015.12.051] [Citation(s) in RCA: 34] [Impact Index Per Article: 3.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/23/2015] [Revised: 11/28/2015] [Accepted: 12/15/2015] [Indexed: 01/20/2023]
Abstract
BACKGROUND Partial hepatectomy and cyst fenestration (PHCF) selectively provides clinical benefit in highly symptomatic patients with polycystic liver disease (PLD). This study aims to ascertain whether the reduction in liver volume (LV) achieved by PHCF is sustained long term. STUDY DESIGN Clinical data were retrieved from the electronic records of all patients with PLD who underwent PHCF between 1985 and 2014. Preoperative LVs (LV1), postoperative LVs (LV2), and late follow-up LVs (LV3) were measured from magnetic resonance or CT images. RESULTS Among 186 patients who underwent PHCF, 91% were Caucasian women with autosomal dominant polycystic kidney disease with a mean age of 49 years. Major perioperative complications (Clavien III/IV) occurred in 21% of the patients. Operative mortality (<90 days) was 2.7%. Eleven patients had liver failure develop, received liver transplants, or had liver-related deaths. Overall survival was 95.7%, 93.3%, 85.6%, and 77.7% at 1, 5, 10, and 15 years respectively. Imaging records for volumetry were unavailable in 32 patients. Of the remaining 154 patients, 34 had imaging for 1 LV, 64 for 2 LVs, and 55 for all 3 LVs. Median LV was 6,781 mL (interquartile range 4,903 to 8,341 mL) preoperatively and 2,502 mL (interquartile range 2,089 to 3,136 mL) after PHCF, leading to a median postoperative LV reduction of 61%. At follow-up (mean 8 years), median LV was 2,519 mL (interquartile range 2,083 to 3,752 mL). Interestingly, 33 of 62 patients with available LV2 and LV3 showed additional regression in LV at follow-up (median -14.1%), and the rest showed mild growth of 9.9%. Overall volumetric comparison of preoperative with follow-up liver imaging showed sustained LV reduction (median 61%). CONCLUSIONS Sustained long-term reductions in LV after PHCF can be achieved in selected patients with severe, highly symptomatic PLD. In our experience, liver-related death and subsequent liver transplantation are infrequent after PHCF.
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Affiliation(s)
- Fouad T Chebib
- Division of Nephrology and Hypertension, Mayo Clinic, Mayo Clinic College of Medicine, Rochester, MN
| | - Amber Harmon
- Division of Nephrology and Hypertension, Mayo Clinic, Mayo Clinic College of Medicine, Rochester, MN
| | - Maria V Irazabal Mira
- Division of Nephrology and Hypertension, Mayo Clinic, Mayo Clinic College of Medicine, Rochester, MN
| | - Yeon Soon Jung
- Division of Nephrology and Hypertension, Mayo Clinic, Mayo Clinic College of Medicine, Rochester, MN
| | - Marie E Edwards
- Division of Nephrology and Hypertension, Mayo Clinic, Mayo Clinic College of Medicine, Rochester, MN
| | - Marie C Hogan
- Division of Nephrology and Hypertension, Mayo Clinic, Mayo Clinic College of Medicine, Rochester, MN
| | - Patrick S Kamath
- Division of Gastroenterology and Hepatology, Mayo Clinic, Mayo Clinic College of Medicine, Rochester, MN
| | - Vicente E Torres
- Division of Nephrology and Hypertension, Mayo Clinic, Mayo Clinic College of Medicine, Rochester, MN
| | - David M Nagorney
- Department of Surgery, Mayo Clinic, Mayo Clinic College of Medicine, Rochester, MN.
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Jung DH, Hwang S, Ahn CS, Moon DB, Song GW, Kim KH, Ha TY, Park GC, Lee SG. Fenestration of liver cysts in polycystic liver disease to improve quality of life: a case report and literature review. KOREAN JOURNAL OF HEPATO-BILIARY-PANCREATIC SURGERY 2015; 19:40-6. [PMID: 26155276 PMCID: PMC4494095 DOI: 10.14701/kjhbps.2015.19.1.40] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 01/11/2015] [Revised: 01/30/2015] [Accepted: 02/19/2015] [Indexed: 12/05/2022]
Abstract
Polycystic liver disease (PCLD) is characterized by a large number of liver cysts scattered throughout the liver parenchyma. We herein intend to present the beneficial effect of palliative fenestration treatment on quality of life in a patient with symptomatic PCLD. A 48-year-old female patient had been followed up for 5 years for both polycystic liver and kidney diseases at another institution. During follow-up for last 1 year, we recognized that she had barely maintained her ability of function in daily activities due to progressive worsening of fatigue and dyspnea on exertion. The patient finally underwent surgical fenestration treatment. Multiple cysts in the enlarged liver were opened and the cyst walls were excised with electrocautery. No surgical complication occurred and the patient was discharged 10 days after the open fenestration surgery. The total liver volume was 3,870 ml before surgery and 3,125 ml at 1 week after surgery, showing a volume reduction of 19.3%. After surgery, her performance status improved significantly. In the present case, significant improvement in quality of life and daily activity performance was achieved after open fenestration treatment over 18 months of follow-up without disease recurrence.
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Affiliation(s)
- Dong-Hwan Jung
- Division of Hepatobiliary Surgery and Liver Transplantation, Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
| | - Shin Hwang
- Division of Hepatobiliary Surgery and Liver Transplantation, Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
| | - Chul-Soo Ahn
- Division of Hepatobiliary Surgery and Liver Transplantation, Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
| | - Deok-Bog Moon
- Division of Hepatobiliary Surgery and Liver Transplantation, Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
| | - Gi-Won Song
- Division of Hepatobiliary Surgery and Liver Transplantation, Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
| | - Ki-Hun Kim
- Division of Hepatobiliary Surgery and Liver Transplantation, Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
| | - Tae-Yong Ha
- Division of Hepatobiliary Surgery and Liver Transplantation, Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
| | - Gil-Chun Park
- Division of Hepatobiliary Surgery and Liver Transplantation, Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
| | - Sung-Gyu Lee
- Division of Hepatobiliary Surgery and Liver Transplantation, Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
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Wijnands TFM, Gevers TJG, Kool LJS, Drenth JPH. Aspiration sclerotherapy combined with pasireotide to improve reduction of large symptomatic hepatic cysts (SCLEROCYST): study protocol for a randomized controlled trial. Trials 2015; 16:82. [PMID: 25873132 PMCID: PMC4355152 DOI: 10.1186/s13063-015-0607-3] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/07/2014] [Accepted: 02/12/2015] [Indexed: 12/25/2022] Open
Abstract
BACKGROUND Aspiration sclerotherapy is an effective therapeutic option for large symptomatic hepatic cysts. However, incomplete cyst reduction following aspiration sclerotherapy is frequently reported. Strong post-procedural cyst fluid secretion by cholangiocytes, which line the epithelium of the hepatic cyst, seems to be associated with lower reduction rates. Previous studies showed that somatostatin analogues curtail hepatic cyst fluid production. This trial will evaluate the effect of aspiration sclerotherapy combined with the somatostatin analogue pasireotide on cyst reduction. By combining treatment modalities we aim to improve cyst reduction leading to greater symptomatic relief and reduced rates of cyst recurrence. METHODS/DESIGN This single center, randomized, double-blind, placebo-controlled clinical trial evaluates the additional effect of pasireotide when combined with aspiration sclerotherapy in patients with a large (>5 cm) symptomatic hepatic cyst. A total of 34 participants will be randomized in a 1:1 ratio. In the active arm, patients will receive pasireotide (long-acting release, 60 mg injection) two weeks prior to and two weeks following aspiration sclerotherapy. Patients in the control arm will receive placebo injections at corresponding intervals. The primary outcome is proportional cyst diameter reduction four weeks after aspiration sclerotherapy compared to baseline measurements, obtained by ultrasonography. As secondary outcomes, proportional volume reduction, recurrence, symptomatic relief and improvement of health-related quality of life will be assessed. Furthermore, safety and tolerability of the combination of pasireotide and aspiration sclerotherapy will be evaluated. DISCUSSION This trial aims to improve efficacy of aspiration sclerotherapy by a combined approach of two treatment modalities. We hypothesize that pasireotide will decrease fluid re-accumulation after aspiration sclerotherapy, leading to effective hepatic cyst reduction and symptomatic relief. TRIALS REGISTRATION This trial is registered with ClinicalTrials.gov (identifier: NCT02048319 ; registered on 6 January 2014) and EudraCT (identifier: 2013-003168-29; registered on 16 August 2013).
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Affiliation(s)
- Titus F M Wijnands
- Department of Gastroenterology and Hepatology, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
| | - Tom J G Gevers
- Department of Gastroenterology and Hepatology, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
| | - Leo J Schultze Kool
- Department of Radiology, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
| | - Joost P H Drenth
- Department of Gastroenterology and Hepatology, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
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16
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Riccio E, Santangelo M, Scotti A, Pisani A. A strange epigastric pain. Clin Kidney J 2014; 7:493-4. [PMID: 25878786 PMCID: PMC4379346 DOI: 10.1093/ckj/sfu088] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/17/2014] [Accepted: 07/29/2014] [Indexed: 11/13/2022] Open
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Bai X, Ye L, Chen W, Cao C, Wang L, Li J, Gao S, Lou J, Zhang Y, Liang T. A Case Report on Successful Liver Transplantation from a Donor with Polycystic Liver. Indian J Surg 2014; 76:405-407. [PMID: 26396475 PMCID: PMC4571516 DOI: 10.1007/s12262-013-1007-0] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/04/2013] [Accepted: 10/29/2013] [Indexed: 10/26/2022] Open
Abstract
Organ shortage is a major issue faced by both transplant surgeons and patients. To enlarge the donor pool, marginal liver grafts are being increasingly used. In this paper, we present the case of a patient in whom a polycystic liver was successfully transplanted from a donor after brain and cardiac death. To our knowledge, this is the first successful case of liver transplantation using polycystic liver from a donation after brain and cardiac death.
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Affiliation(s)
- Xueli Bai
- Department of Hepatobiliary-Pancreatic Surgery, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang St, Hangzhou, China 310009
| | - Longyun Ye
- Department of Hepatobiliary-Pancreatic Surgery, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang St, Hangzhou, China 310009
| | - Wei Chen
- Department of Hepatobiliary-Pancreatic Surgery, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang St, Hangzhou, China 310009
| | - Chunhui Cao
- Department of Hepatobiliary-Pancreatic Surgery, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang St, Hangzhou, China 310009
| | - Liang Wang
- Department of Hepatobiliary-Pancreatic Surgery, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang St, Hangzhou, China 310009
| | - Jiangtao Li
- Department of Hepatobiliary-Pancreatic Surgery, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang St, Hangzhou, China 310009
| | - Shunliang Gao
- Department of Hepatobiliary-Pancreatic Surgery, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang St, Hangzhou, China 310009
| | - Jianying Lou
- Department of Hepatobiliary-Pancreatic Surgery, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang St, Hangzhou, China 310009
| | - Yun Zhang
- Department of Hepatobiliary-Pancreatic Surgery, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang St, Hangzhou, China 310009
| | - Tingbo Liang
- Department of Hepatobiliary-Pancreatic Surgery, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang St, Hangzhou, China 310009
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18
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Bakoyiannis A, Delis S, Triantopoulou C, Dervenis C. Rare cystic liver lesions: A diagnostic and managing challenge. World J Gastroenterol 2013; 19:7603-7619. [PMID: 24282350 PMCID: PMC3837259 DOI: 10.3748/wjg.v19.i43.7603] [Citation(s) in RCA: 29] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/23/2013] [Revised: 09/09/2013] [Accepted: 09/17/2013] [Indexed: 02/06/2023] Open
Abstract
Cystic formations within the liver are a frequent finding among populations. Besides the common cystic lesions, like simple liver cysts, rare cystic liver lesions like cystadenocarcinoma should also be considered in the differential diagnosis. Thorough knowledge of each entity’s nature and course are key elements to successful treatment. Detailed search in PubMed, Cochrane Database, and international published literature regarding rare cystic liver lesions was carried out. In our research are included not only primary rare lesions like cystadenoma, hydatid cyst, and polycystic liver disease, but also secondary ones like metastasis from gastrointestinal stromal tumors lesions. Up-to date knowledge regarding diagnosis and management of rare cystic liver lesions is provided. A diagnostic and therapeutic algorithm is also proposed. The need for a multidisciplinary approach by a team including radiologists and surgeons familiar with liver cystic entities, diagnostic tools, and treatment modalities is stressed. Patients with cystic liver lesions must be carefully evaluated by a multidisciplinary team, in order to receive the most appropriate treatment, since many cystic liver lesions have a malignant potential and evolution.
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19
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Long-term outcome after laparoscopic fenestration of simple liver cysts. Surg Endosc 2013; 27:4670-4. [PMID: 23943117 DOI: 10.1007/s00464-013-3104-3] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/12/2013] [Accepted: 07/09/2013] [Indexed: 01/01/2023]
Abstract
BACKGROUND Simple liver cysts (LCs) represent the most common benign liver disease, with a prevalence of 3-5%. Laparoscopic fenestration is considered the best treatment for symptomatic LCs, but few studies have analyzed the rate or type of recurrence during a long-term follow-up period (>5 years). METHODS Between January 2000 and December 2010, 47 patients underwent laparoscopic fenestration for simple LCs. The indications were symptoms for 42 patients and an uncertain diagnosis for five patients. The follow-up assessment consisted of regular patient evaluations, with results of laboratory data and liver ultrasound. RESULTS Conversion to laparotomy was not necessary in any case. The postoperative mortality and morbidity rates were nil. The mean follow-up period was 67 months (range 12-142 months), and 26 patients (55.3%) had a follow-up period longer than 5 years. During the follow-up period, 40 patients (85.1%) did not present with any type of recurrence. The overall recurrence rate was 14.9% (seven patients) based on five patients (10.6%) with radiologic asymptomatic recurrences detected by ultrasound or computed tomography (CT) scan and two patients (4.3%) with clinicoradiologic symptomatic recurrences. Both symptomatic recurrences involved LCs located in the right posterior segments. CONCLUSIONS Laparoscopic fenestration provided complete relief of symptoms for about 95% of patients with simple LCs. Recurrence after surgery was experienced by 14.9% of the patients, but only in 4.3% (two patients) was this recurrence symptomatic requiring a second treatment. The site of recurrence was more frequently in the right posterior segments. Laparoscopic fenestration of symptomatic LCs can be considered a safe and effective procedure that can yield good long-term results.
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20
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Koutsampasopoulos K, Antoniadou E, Zoutis S, Iacovidis G, Burova O, Taplidis A. Neuroendocrine tumor in the liver of a patient with isolated polycystic liver disease: A case report and review of the literature. Oncol Lett 2013; 5:1664-1666. [PMID: 23761831 PMCID: PMC3678662 DOI: 10.3892/ol.2013.1233] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/14/2012] [Accepted: 01/04/2013] [Indexed: 11/15/2022] Open
Abstract
Neuroendocrine tumors (NETs) frequently metastasize to the liver, but it is rare to find them there as primary tumors. Isolated polycystic liver disease (PCLD) is a rare autosomal dominant disease. There is no known association between polycystic liver disease and neuroendocrine or other tumors. We report a case of a 64-year-old female with a past medical history of isolated PCLD who presented with increasing abdominal pain over a two-week period. Our patient underwent open surgical biopsy one month after presentation. The histological examination and immunohistochemical findings suggested an intermediate grade neuroendocrine tumor. A 24-h delayed whole-body scintigraphy technique was utilized for the identification and localization of neuroendocrine tumors via the administration of In-111-labeled OctreoScan; however, no extrahepatic accumulation was observed. No previous studies in the literature describe a patient with PCLD and a primary or metastatic neuroendocrine tumor of the liver.
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21
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Monk KR, Voas MG, Franzini-Armstrong C, Hakkinen IS, Talbot WS. Mutation of sec63 in zebrafish causes defects in myelinated axons and liver pathology. Dis Model Mech 2013; 6:135-45. [PMID: 22864019 PMCID: PMC3529346 DOI: 10.1242/dmm.009217] [Citation(s) in RCA: 20] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/18/2011] [Accepted: 07/19/2012] [Indexed: 12/17/2022] Open
Abstract
Mutations in SEC63 cause polycystic liver disease in humans. Sec63 is a member of the endoplasmic reticulum (ER) translocon machinery, although it is unclear how mutations in SEC63 lead to liver cyst formation in humans. Here, we report the identification and characterization of a zebrafish sec63 mutant, which was discovered in a screen for mutations that affect the development of myelinated axons. Accordingly, we show that disruption of sec63 in zebrafish leads to abnormalities in myelinating glia in both the central and peripheral nervous systems. In the vertebrate nervous system, segments of myelin are separated by the nodes of Ranvier, which are unmyelinated regions of axonal membrane containing a high density of voltage-gated sodium channels. We show that sec63 mutants have morphologically abnormal and reduced numbers of clusters of voltage-gated sodium channels in the spinal cord and along peripheral nerves. Additionally, we observed reduced myelination in both the central and peripheral nervous systems, as well as swollen ER in myelinating glia. Markers of ER stress are upregulated in sec63 mutants. Finally, we show that sec63 mutants develop liver pathology. As in glia, the primary defect, detectable at 5 dpf, is fragmentation and swelling of the ER, indicative of accumulation of proteins in the lumen. At 8 dpf, ER swelling is severe; other pathological features include disrupted bile canaliculi, altered cytoplasmic matrix and accumulation of large lysosomes. Together, our analyses of sec63 mutant zebrafish highlight the possible role of ER stress in polycystic liver disease and suggest that these mutants will serve as a model for understanding the pathophysiology of this disease and other abnormalities involving ER stress.
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Affiliation(s)
- Kelly R. Monk
- Department of Developmental Biology, Stanford University School of Medicine, Stanford, CA 94305, USA
- Department of Developmental Biology, Washington University School of Medicine, St Louis, MO 63110, USA
| | - Matthew G. Voas
- Department of Developmental Biology, Stanford University School of Medicine, Stanford, CA 94305, USA
| | - Clara Franzini-Armstrong
- Department of Cell and Developmental Biology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104-6058, USA
| | - Ian S. Hakkinen
- Department of Developmental Biology, Washington University School of Medicine, St Louis, MO 63110, USA
| | - William S. Talbot
- Department of Developmental Biology, Stanford University School of Medicine, Stanford, CA 94305, USA
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Coelho-Prabhu N, Nagorney DM, Baron TH. ERCP for the treatment of bile leak after partial hepatectomy and fenestration for symptomatic polycystic liver disease. World J Gastroenterol 2012; 18:3705-9. [PMID: 22851862 PMCID: PMC3406422 DOI: 10.3748/wjg.v18.i28.3705] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/09/2011] [Revised: 12/14/2011] [Accepted: 03/10/2012] [Indexed: 02/06/2023] Open
Abstract
AIM: To describe endoscopic treatment of bile leaks in these patients and to identify risk factors in these patients which can predict the development of bile leaks.
METHODS: Retrospective case-control study examining consecutive patients who underwent partial hepatectomy for polycystic liver disease (PLD) and developed a postoperative bile leak managed endoscopically over a ten year period. Each case was matched with two controls with PLD who did not develop a postoperative bile leak.
RESULTS: Ten cases underwent partial hepatectomy with fenestration for symptoms including abdominal distention, pain and nausea. Endoscopic retrograde cholangiopancreatography (ERCP) showed anatomic abnormalities in 1 case. A biliary sphincterotomy was performed in 4 cases. A plastic biliary stent was placed with the proximal end at the site of the leak in 9 cases; in 1 case two stents were placed. The overall success rate of ERCP to manage the leak was 90%. There were no significant differences in age, gender, comorbidities, duration of symptoms, history of previous surgery or type of surgery performed between cases and controls.
CONCLUSION: ERCP with stent placement is safe and effective for management of post-hepatectomy bile leak in patients with PLD.
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23
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Neto AB, Zanini MA, DA Silva APC, Winckler C, Dos Santos RM, Furtado ML. Meningeal tumor: A rare extrahepatic association in patients with polycystic liver disease enrolled for liver transplantation. Oncol Lett 2012; 3:1007-1010. [PMID: 22783381 DOI: 10.3892/ol.2012.605] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/05/2011] [Accepted: 11/14/2011] [Indexed: 11/05/2022] Open
Abstract
In the present study, we described a rare association of polycystic liver disease (PCLD) with intracranial meningiomas in patients included on a liver transplant list, focusing on the diagnosis, treatment and possible association with any genetic alterations. Two female patients, aged 39 and 49 years were included on a liver transplant list due to extensive PCLD, with symptoms related to an abdominal compartmental syndrome. Screening for extrahepatic manifestation revealed a right frontal meningioma in the first patient, and a parietal posterior calcified meningioma in the second patient, measuring 1 and 7×3×2 cm in diameter, respectively. Following tumor removal, the histological pattern was compatible with fibrous and transitional meningioma, respectively. Cytogenetic studies conducted following surgery did not reveal any changes in metaphase chromosomes. The postoperative follow-up for the two patients was uneventful, without complications, with the patients remaining on a liver transplant waiting list. We conclude that screening for extrahepatic manifestations of PCLD is mandatory, as certain lesions require treatment prior to liver transplantation. The lack of a genetic or familial association between these two cases show they are likely to have occurred by chance, rather than representing a previously unrecognized association between polycystic liver disease and cranial meningioma.
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Affiliation(s)
- Alexandre Bakonyi Neto
- Department of Surgery, Division of Gastrointestinal Transplant, Botucatu Faculty of Medicine, UNESP, Botucatu, SP, Brazil
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Gevers TJG, Chrispijn M, Wetzels JFM, Drenth JPH. Rationale and design of the RESOLVE trial: lanreotide as a volume reducing treatment for polycystic livers in patients with autosomal dominant polycystic kidney disease. BMC Nephrol 2012; 13:17. [PMID: 22475206 PMCID: PMC3368739 DOI: 10.1186/1471-2369-13-17] [Citation(s) in RCA: 14] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/13/2011] [Accepted: 04/04/2012] [Indexed: 01/31/2023] Open
Abstract
BACKGROUND A large proportion of patients with autosomal dominant polycystic kidney disease (ADPKD) suffers from polycystic liver disease. Symptoms arise when liver volume increases. The somatostatin analogue lanreotide has proven to reduce liver volume in patients with polycystic liver disease. However, this study also included patients with isolated polycystic liver disease (PCLD). The RESOLVE trial aims to assess the efficacy of lanreotide treatment in ADPKD patients with symptomatic polycystic livers. In this study we present the design of the RESOLVE trial. METHODS/DESIGN This open-label clinical trial evaluates the effect of 6 months of lanreotide in ADPKD patients with symptomatic polycystic livers. Primary outcome is change in liver volume determined by computerised tomography-volumetry. Secondary outcomes are changes in total kidney volume, kidney intermediate volume and renal function. Furthermore, urinary (NGAL, α1-microglobulin, KIM-1, H-FABP, MCP-1) and serum (fibroblast growth factor 23) biomarkers associated with ADPKD disease severity are assessed to investigate whether these biomarkers predict treatment responses to lanreotide. Moreover, safety and tolerability of the drug in ADPKD patients will be assessed. DISCUSSION We anticipate that lanreotide is an effective therapeutic option for ADPKD patients with symptomatic polycystic livers and that this trial aids in the identification of patient related factors that predict treatment response. TRIAL REGISTRATION NUMBER Clinical trials.gov NCT01354405.
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Affiliation(s)
- Tom JG Gevers
- Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands
| | - Melissa Chrispijn
- Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands
| | - Jack FM Wetzels
- Department of Nephrology, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands
| | - Joost PH Drenth
- Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands
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Chapal M, Debout A, Dufay A, Salomon R, Roussey G, Burtey S, Launay EA, Vigneau C, Blancho G, Loirat C, Hourmant M, Fakhouri F. Kidney and liver transplantation in patients with autosomal recessive polycystic kidney disease: a multicentric study. Nephrol Dial Transplant 2011; 27:2083-8. [DOI: 10.1093/ndt/gfr588] [Citation(s) in RCA: 27] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/14/2023] Open
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Kamphues C, Rather M, Engel S, Schmidt SC, Neuhaus P, Seehofer D. Laparoscopic fenestration of non-parasitic liver cysts and health-related quality of life assessment. Updates Surg 2011; 63:243-7. [PMID: 21927951 DOI: 10.1007/s13304-011-0110-7] [Citation(s) in RCA: 14] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/23/2011] [Accepted: 09/05/2011] [Indexed: 02/07/2023]
Abstract
Although laparoscopic fenestration has become an established treatment in symptomatic liver cyst patients in the recent years, the success of surgical treatment cannot only be evaluated by post-operative morbidity and mortality. Therefore, the aim of this study was to analyze the safety of laparoscopic fenestration of non-parasitic liver cysts and to assess the impact of this therapy on patients' quality of life. A total of 43 patients who underwent laparoscopic fenestration of non-parasitic liver cysts at our center were included in this study. Post-operative course was assessed and patients' quality of life was evaluated before surgery and at present time using the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire Core-30 (QLQ C-30). The results were that, post-operative morbidity and mortality rates were 0%. After a median follow-up of 49 months (19-97 months) the recurrence rate was 11.1% for simple liver cysts (SLC) and 42.9% for polycystic liver disease (PCLD). Thirty-one out of 43 patients (72.1%) completed the EORTC C-30 questionnaire. There was highly significant post-operative improvement in global health status (p < 0.001) as well as in physical (p = 0.002), role (p = 0.004), emotional (p = 0.003) and social (p = 0.001) functioning. Furthermore, a significant reduction of symptoms could be shown for pain (p < 0.001), nausea and vomiting (p = 0.001), appetite loss (p = 0.006), insomnia (p = 0.04) and fatigue (p = 0.025). To conclude, laparoscopic fenestration of symptomatic non-parasitic liver cysts is a safe procedure with good long-term results and the patients' benefit of this intervention is excellent as shown by highly significant improvement in patients' quality of life.
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Affiliation(s)
- C Kamphues
- Department of General, Visceral and Transplantation Surgery, Universitätsklinikum Charité, University Medicine, Campus Virchow Clinic, Humboldt-Universität, Augustenburger Platz 1, 13353, Berlin, Germany.
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Zong Y, Stanger BZ. Molecular mechanisms of bile duct development. Int J Biochem Cell Biol 2011; 43:257-64. [PMID: 20601079 PMCID: PMC2990791 DOI: 10.1016/j.biocel.2010.06.020] [Citation(s) in RCA: 65] [Impact Index Per Article: 4.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/29/2009] [Revised: 04/12/2010] [Accepted: 06/22/2010] [Indexed: 12/11/2022]
Abstract
The mammalian biliary system, consisting of the intrahepatic and extrahepatic bile ducts, is responsible for transporting bile from the liver to the intestine. Bile duct dysfunction, as is seen in some congenital biliary diseases such as Alagille syndrome and biliary atresia, can lead to the accumulation of bile in the liver, preventing the excretion of detoxification products and ultimately leading to liver damage. Bile duct formation requires coordinated cell-cell interactions, resulting in the regulation of cell differentiation and morphogenesis. Multiple signaling molecules and transcription factors have been identified as important regulators of bile duct development. This review summarizes recent progress in the field. Insights gained from studies of the molecular mechanisms of bile duct development have the potential to reveal novel mechanisms of differentiation and morphogenesis in addition to potential targets for therapy of bile duct disorders.
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Affiliation(s)
- Yiwei Zong
- Department of Medicine, Abramson Family Cancer Research Institute, University of Pennsylvania, School of Medicine, Philadelphia, PA, USA
| | - Ben Z. Stanger
- Department of Medicine, Abramson Family Cancer Research Institute, University of Pennsylvania, School of Medicine, Philadelphia, PA, USA
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Leuenroth SJ, Bencivenga N, Chahboune H, Hyder F, Crews CM. Triptolide reduces cyst formation in a neonatal to adult transition Pkd1 model of ADPKD. Nephrol Dial Transplant 2010; 25:2187-94. [PMID: 20139063 DOI: 10.1093/ndt/gfp777] [Citation(s) in RCA: 47] [Impact Index Per Article: 3.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/30/2022] Open
Abstract
BACKGROUND Autosomal dominant polycystic kidney disease (ADPKD), a major cause of end-stage renal failure, results from genetic mutation of either polycystin-1 (Pkd1) or polycystin-2 (Pkd2). In order to develop novel therapies to treat the advancement of disease progression, numerous rodent models of different genetic backgrounds are available to study cyst development. METHODS Here, a Pkd1-floxed inducible mouse model using the interferon responsive Mx1Cre-recombinase was utilized to test the effect of the small molecule triptolide. Relative to other Pkd1 inactivation models, cyst progression in this neonatal to adult transition model is attenuated. Following the characterization of inducible cyst formation in these mice, the development of kidney cysts from triptolide or vehicle-treated animals was analysed. RESULTS Although Pkd1 deletion on postnatal Days P10 and P12 resulted in numerous cysts by P35, daily injections with triptolide beginning on Day P16 significantly reduced the total number of cysts per kidney, with a pronounced effect on the number of microcysts and the overall cystic burden. Additionally, renal function as assessed by blood urea nitrogen levels was also improved in triptolide-treated mice at both the P22 and P35 time points. As the Pkd1(flox/flox);Mx1Cre model has not been previously used for drug development studies, the feasibility of a 6-month adult Pkd1 inactivation study was also tested. While kidney cyst formation was minimal and focal in nature, livers of these Pkd1-deficient mice were severely cystic, enlarged and pale. CONCLUSIONS These results suggest that the Pkd1(flox/flox);Mx1Cre model of ADPKD is amenable to short-term kidney cyst formation drug studies; however, it may be problematic for long-term therapeutic research where widespread liver cysts and fibrosis could compromise drug metabolism.
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Affiliation(s)
- Stephanie J Leuenroth
- Department of Molecular, Cellular, and Developmental Biology, Yale University, New Haven, CT 06511, USA
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Lee SO, Masyuk T, Splinter P, Banales JM, Masyuk A, Stroope A, Larusso N. MicroRNA15a modulates expression of the cell-cycle regulator Cdc25A and affects hepatic cystogenesis in a rat model of polycystic kidney disease. J Clin Invest 2008; 118:3714-24. [PMID: 18949056 DOI: 10.1172/jci34922] [Citation(s) in RCA: 129] [Impact Index Per Article: 7.6] [Reference Citation Analysis] [Abstract] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/03/2008] [Accepted: 09/17/2008] [Indexed: 12/19/2022] Open
Abstract
Hyperproliferation of bile duct epithelial cells due to cell-cycle dysregulation is a key feature of cystogenesis in polycystic liver diseases (PCLDs). Recent evidence suggests a regulatory role for microRNAs (miRNAs) in a variety of biological processes, including cell proliferation. We therefore hypothesized that miRNAs may be involved in the regulation of selected components of the cell cycle and might contribute to hepatic cystogenesis. We found that the cholangiocyte cell line PCK-CCL, which is derived from the PCK rat, a model of autosomal recessive polycystic kidney disease (ARPKD), displayed global changes in miRNA expression compared with normal rat cholangiocytes (NRCs). More specific analysis revealed decreased levels of 1 miRNA, miR15a, both in PCK-CCL cells and in liver tissue from PCK rats and patients with a PCLD. The decrease in miR15a expression was associated with upregulation of its target, the cell-cycle regulator cell division cycle 25A (Cdc25A). Overexpression of miR15a in PCK-CCL cells decreased Cdc25A levels, inhibited cell proliferation, and reduced cyst growth. In contrast, suppression of miR15a in NRCs accelerated cell proliferation, increased Cdc25A expression, and promoted cyst growth. Taken together, these results suggest that suppression of miR15a contributes to hepatic cystogenesis through dysregulation of Cdc25A.
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Affiliation(s)
- Seung-Ok Lee
- Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA
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Barahona-Garrido J, Camacho-Escobedo J, Cerda-Contreras E, Hernández-Calleros J, Yamamoto-Furusho JK, Torre A, Uribe M. Factors that influence outcome in non-invasive and invasive treatment in polycystic liver disease patients. World J Gastroenterol 2008; 14:3195-200. [PMID: 18506925 PMCID: PMC2712852 DOI: 10.3748/wjg.14.3195] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/06/2023] Open
Abstract
AIM: To evaluate the factors that influence outcome of both non-invasive and invasive treatment of polycystic liver disease.
METHODS: Analysis of clinical files of patients with complete follow-up from July 1986 to June 2006.
RESULTS: Forty-one patients (male, 7; female, 34), 47.8 ± 11.9 years age, and 5.7 ± 6.7 years follow-up, were studied. Alkaline phosphatase (AP) elevation (15% of patients) was associated with the requirement of invasive treatment (IT, P = 0.005). IT rate was higher in symptomatic than non-symptomatic patients (65.4% vs 14.3%, P = 0.002), and in women taking hormonal replacement therapy (HRT) (P = 0.001). Cysts complications (CC) were more frequent (22%) in the symptomatic patients group (P = 0.023). Patients with body mass index (BMI) > 25 (59%) had a trend to complications after IT (P = 0.075). Abdominal pain was the most common symptom (56%) and indication for IT (78%). Nineteen patients (46%) required a first IT: 12 open fenestration (OF), 4 laparoscopic fenestration (LF) and 3 fenestration with hepatic resection (FHR). Three required a second IT, and one required a third procedure. Complications due to first IT were found in 32% (OF 16.7%, LF 25%, FHR 66.7%), and in the second IT in 66.7% (OF 100%). Follow-up mortality rate was 0.
CONCLUSION: Presence of symptoms, elevated AP, and CC are associated with IT requirement. HRT is associated with presence of symptoms and IT requirement. Patients with BMI > 25 have a trend be susceptible to IT complications. The proportions of complications are higher in FHR and second IT groups. RS is more frequent after OF.
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Delis SG, Bakoyiannis A, Triantopoulou C, Paraskeva K, Athanassiou K, Dervenis C. Obstructive jaundice in polycystic liver disease related to coexisting cholangiocarcinoma. Case Rep Gastroenterol 2008; 2:162-9. [PMID: 21490883 PMCID: PMC3075137 DOI: 10.1159/000129600] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/26/2022] Open
Abstract
Although jaundice rarely complicates polycystic liver disease (PLD), secondary benign or malignant causes cannot be excluded. In a 72-year-old female who presented with increased abdominal girth, dyspnea, weight loss and jaundice, ultrasound and computed tomography confirmed the diagnosis of PLD by demonstrating large liver cysts causing extrahepatic bile duct compression. Percutaneous cyst aspiration failed to relief jaundice due to distal bile duct cholangiocarcinoma, suspected by magnetic resonance cholangiopancreatography (MRCP) and confirmed by endoscopic retrograde cholangiopancreatography (ERCP). Coexistence of PLD with distal common bile duct cholangiocarcinoma has not been reported so far.
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Abstract
The adult forms of polycystic liver disease are characterized by autosomal dominant inheritance and numerous hepatic cysts, with or without renal involvement. Mutations in two distinct genes predispose to renal and liver cysts (PKD1 and PKD2), and mutations in two different genes yield isolated liver cysts (PRKCSH and SEC63). Mutations at certain loci of PKD1 may predispose to more severe renal cystic disease or cerebral aneurysms. Risk factors for severe hepatic cystic disease include aging, female sex, pregnancy, use of exogenous female steroid hormones, degree of renal cystic disease, or severity of renal dysfunction (in patients with mutations in PKD1 or PKD2). Although liver failure or complications of advanced liver disease is rare, some patients develop massive hepatic cystic disease and become clinically symptomatic. There is no effective medical therapy. Treatment options include cyst aspiration and sclerosis, open or laparoscopic cyst fenestration, hepatic resection, and liver transplantation.
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Affiliation(s)
- Gregory T Everson
- Division of Gastroenterology and Hepatology, University of Colorado School of Medicine, 4200 East Ninth Avenue, B-154, Denver, CO 80262, USA.
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Peces R, Drenth JPH, Te Morsche RHM, González P, Peces C. Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation. World J Gastroenterol 2006; 11:7690-3. [PMID: 16437702 PMCID: PMC4727230 DOI: 10.3748/wjg.v11.i48.7690] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/06/2023] Open
Abstract
Polycystic liver disease (PLD) is characterized by the presence of multiple bile duct-derived epithelial cysts scattered in the liver parenchyma. PLD can manifest itself in patients with severe autosomal dominant polycystic kidney disease (ADPKD). Isolated autosomal dominant polycystic liver disease (ADPLD) is genetically distinct from PLD associated with ADPKD, although it may have similar pathogenesis and clinical manifestations. Recently, mutations in two causative genes for ADPLD, independently from ADPKD, have been identified. We report here a family (a mother and her daughter) with a severe form of ADPLD not associated with ADPKD produced by a novel missense protein kinase C substrate 80K-H (PRKCSH) mutation (R281W). This mutation causes a severe phenotype, since the two affected subjects manifested signs of portal hypertension. Doppler sonography, computed tomography (CT) and magnetic resonance (MR) imaging are effective in documenting the underlying lesions in a non-invasive way.
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Affiliation(s)
- Ramón Peces
- Servicio de Nefrologia, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain.
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