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Hassona Y, Hassan S, Atef A, Flaifl Y, AlShammas F, Abdaljaleel M. Primary hyperoxaluria: Description of a new oral finding and review of literature. SPECIAL CARE IN DENTISTRY 2024; 44:1041-1048. [PMID: 38321570 DOI: 10.1111/scd.12968] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/16/2023] [Revised: 01/04/2024] [Accepted: 01/20/2024] [Indexed: 02/08/2024]
Abstract
OBJECTIVES Oro-dental manifestations of hyperoxaluria and dental management of affected patients are rarely reported in the literature. We describe a new oral presentation of primary hyperoxaluria (PH) and review relevant literature about oro-dental manifestations and management of dental complications of hyperoxaluria. METHODS A case report of a 44-year-old female who presented with symptoms of temporomandibular joint dysfunction due to hyperoxaluria was described according to the CARE guidelines. In addition, an extensive search of biomedical databases (PubMed, Medline, Google Scholar, and Embase) for articles describing oro-dental manifestations and/or dental management in patients with hyperoxaluria was performed using the key words ("oral" and/or "hyperoxaluria" and/or "dental" and/or "oxalosis"). Included articles were reviewed and data about patient demographics, disease type and stage, oral and dental manifestations, and dental treatment outcome were retrieved and analyzed. RESULTS A total of 14 articles describing the oral and dental manifestations in 15 patients with hyperoxaluria were included. Tooth mobility, root resorption, and radiographic alterations were consistently described in all cases. Oral manifestations were described mainly in PH at late stages, and only after the onset of chronic renal disease. Dental management in all reported cases was palliative and aimed to relive pain and treat periodontal infection. Tooth loss due to extraction or uncontrolled mobility was the ultimate outcome in almost all reported cases. CONCLUSION Oral and dental manifestations in hyperoxaluria are rarely reported in the literature. Management of tooth mobility and root resorption in hyperoxaluria is challenging and clinical guidelines and evidence-based recommendations are lacking. Early diagnosis and treatment of hyperoxaluria might be the only effective approach to prevent dental and periodontal complications of the disease.
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Affiliation(s)
- Yazan Hassona
- Faculty of Dentistry, Centre for Oral Diseases Studies (CODS), Al-Ahliyya Amman University, Amman, Jordan
- School of Dentistry, The University of Jordan, Amman, Jordan
| | - Sora Hassan
- School of Dentistry, The University of Jordan, Amman, Jordan
| | - Alaa Atef
- School of Dentistry, The University of Jordan, Amman, Jordan
| | - Yara Flaifl
- School of Dentistry, The University of Jordan, Amman, Jordan
| | - Faris AlShammas
- Department of Pathology, Microbiology and Forensic Medicine, School of Medicine, The University of Jordan, Amman, Jordan
| | - Maram Abdaljaleel
- Department of Pathology, Microbiology and Forensic Medicine, School of Medicine, The University of Jordan, Amman, Jordan
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Imenez Silva PH, Pepin M, Figurek A, Gutiérrez-Jiménez E, Bobot M, Iervolino A, Mattace-Raso F, Hoorn EJ, Bailey MA, Hénaut L, Nielsen R, Frische S, Trepiccione F, Hafez G, Altunkaynak HO, Endlich N, Unwin R, Capasso G, Pesic V, Massy Z, Wagner CA. Animal models to study cognitive impairment of chronic kidney disease. Am J Physiol Renal Physiol 2024; 326:F894-F916. [PMID: 38634137 DOI: 10.1152/ajprenal.00338.2023] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/19/2023] [Revised: 03/11/2024] [Accepted: 04/04/2024] [Indexed: 04/19/2024] Open
Abstract
Mild cognitive impairment (MCI) is common in people with chronic kidney disease (CKD), and its prevalence increases with progressive loss of kidney function. MCI is characterized by a decline in cognitive performance greater than expected for an individual age and education level but with minimal impairment of instrumental activities of daily living. Deterioration can affect one or several cognitive domains (attention, memory, executive functions, language, and perceptual motor or social cognition). Given the increasing prevalence of kidney disease, more and more people with CKD will also develop MCI causing an enormous disease burden for these individuals, their relatives, and society. However, the underlying pathomechanisms are poorly understood, and current therapies mostly aim at supporting patients in their daily lives. This illustrates the urgent need to elucidate the pathogenesis and potential therapeutic targets and test novel therapies in appropriate preclinical models. Here, we will outline the necessary criteria for experimental modeling of cognitive disorders in CKD. We discuss the use of mice, rats, and zebrafish as model systems and present valuable techniques through which kidney function and cognitive impairment can be assessed in this setting. Our objective is to enable researchers to overcome hurdles and accelerate preclinical research aimed at improving the therapy of people with CKD and MCI.
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Affiliation(s)
- Pedro H Imenez Silva
- Institute of Physiology, University of Zurich, Zurich, Switzerland
- Division of Nephrology and Transplantation, Department of Internal Medicine, Erasmus Medical Center, University Medical Center, Rotterdam, The Netherlands
| | - Marion Pepin
- Institut National de la Santé et de la Recherche Médicale U-1018 Centre de Recherche en Épidémiologie et Santé des Population, Équipe 5, Paris-Saclay University, Versailles Saint-Quentin-en-Yvelines University, Villejuif, France
- Department of Geriatrics, Centre Hospitalier Universitaire Ambroise Paré, Assistance Publique-Hôpitaux de Paris Université Paris-Saclay, Paris, France
| | - Andreja Figurek
- Institute of Anatomy, University of Zurich, Zurich, Switzerland
| | - Eugenio Gutiérrez-Jiménez
- Center for Functionally Integrative Neuroscience, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark
| | - Mickaël Bobot
- Centre de Néphrologie et Transplantation Rénale, Hôpital de la Conception, Assistance Publique-Hopitaux de Marseille, and INSERM 1263, Institut National de la Recherche Agronomique 1260, C2VN, Aix-Marseille Universitaire, Marseille, France
| | - Anna Iervolino
- Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli,' Naples, Italy
| | - Francesco Mattace-Raso
- Division of Geriatrics, Department of Internal Medicine, Erasmus MC University Medical Center, Rotterdam, The Netherlands
| | - Ewout J Hoorn
- Division of Nephrology and Transplantation, Department of Internal Medicine, Erasmus Medical Center, University Medical Center, Rotterdam, The Netherlands
| | - Matthew A Bailey
- Edinburgh Kidney, Centre for Cardiovascular Science, The University of Edinburgh, Edinburgh, United Kingdom
| | - Lucie Hénaut
- UR UPJV 7517, Jules Verne University of Picardie, Amiens, France
| | - Rikke Nielsen
- Department of Biomedicine, Aarhus University, Aarhus, Denmark
| | | | - Francesco Trepiccione
- Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli,' Naples, Italy
| | - Gaye Hafez
- Department of Pharmacology, Faculty of Pharmacy, Altinbas University, Istanbul, Turkey
| | - Hande O Altunkaynak
- Department of Pharmacology, Gulhane Faculty of Pharmacy, University of Health Sciences, Istanbul, Turkey
| | - Nicole Endlich
- Department of Anatomy and Cell Biology, University Medicine Greifswald, Greifswald, Germany
| | - Robert Unwin
- Department of Renal Medicine, Royal Free Hospital, University College London, London, United Kingdom
| | - Giovambattista Capasso
- Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli,' Naples, Italy
- Biogem Research Institute, Ariano Irpino, Italy
| | - Vesna Pesic
- Department of Physiology, Faculty of Pharmacy, University of Belgrade, Belgrade, Serbia
| | - Ziad Massy
- Centre for Research in Epidemiology and Population Health, INSERM UMRS 1018, Clinical Epidemiology Team, University Paris-Saclay, University Versailles-Saint Quentin, Villejuif, France
- Department of Nephrology, Centre Hospitalier Universitaire Ambroise Paré, Assistance Publique-Hôpitaux de Paris Université Paris-Saclay, Paris, France
| | - Carsten A Wagner
- Institute of Physiology, University of Zurich, Zurich, Switzerland
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Mirmiran P, Bahadoran Z, Azizi F. Dietary oxalate-calcium balance and the incidence of hypertension and chronic kidney disease: a prospective study among an Asian population. Nutr Metab (Lond) 2022; 19:74. [PMID: 36329523 PMCID: PMC9632065 DOI: 10.1186/s12986-022-00709-w] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/28/2022] [Accepted: 10/22/2022] [Indexed: 11/05/2022] Open
Abstract
Background The potential effects of dietary oxalate (Ox) intake on cardio-renal function have remained unestablished. We evaluated the effect of usual Ox intake and its interaction with dietary calcium (Ca) on incident hypertension (HTN) and chronic kidney disease (CKD).
Methods Adult men and women, free of HTN and CKD at baseline (2006–2008), were recruited. Dietary intakes were assessed using a validated food frequency questionnaire, and the outcomes were documented up to 2014–2017. Multivariate Cox proportional hazard regression models were used to estimate the development of HTN and CKD in relation to Ox intakes. Repeated-measures generalized estimating equation (GEE) linear regression models were used to assess possible effect of Ox-intake on the estimated glomerular filtration rate (eGFR) and blood pressure levels over eight years.
Results Dietary Ox intakes were positively associated with incident CKD (HR = 2.59, 95% CI = 1.46–4.64) and HTN (HR = 1.79, 95% CI = 1.05–3.04). Compared to high-Ca consumers, subjects who had lower Ca intakes (< 990 vs. 1580 mg/d) had a higher incidence of CKD and HTN (HR = 2.43, 95% CI = 1.06–5.55, and HR = 1.72, 95% CI = 0.76–3.78). Participants with higher intakes of Ox (> 220 vs. < 150 mg/d) had lower eGFR values (75.3, 95% CI = 75.0–76.5 vs. 77.3, 95% CI = 76.6–78.1 mL/min/1.73m2, Ptime×group = 0.004) and higher SBP levels (112, 95% CI = 111–113 vs. 109, 95% CI = 108–110 mmHg, Ptime×group = 0.007) overtime.
Conclusion Higher dietary Ox intake may increase the risk of HTN and CKD. The relation between dietary Ox and risk of HTN and CKD seems to be varied by Ca intake, and subjects with lower Ca intakes may be more burdened by excessive amounts of dietary Ox.
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Bahadoran Z, Mirmiran P, Azizi F. Dietary oxalate to calcium ratio and incident cardiovascular events: a 10-year follow-up among an Asian population. Nutr J 2022; 21:21. [PMID: 35346210 PMCID: PMC8962525 DOI: 10.1186/s12937-022-00773-1] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/01/2021] [Accepted: 03/17/2022] [Indexed: 11/15/2022] Open
Abstract
Background and aim The potential cardiovascular impact of usual intakes of oxalate (Ox) is uninvestigated. We evaluated the effect of dietary Ox and its interaction with dietary calcium (Ca) on incident cardiovascular disease (CVD). Methods We included 2966 adult men and women aged 19–84 y without known CVD during baseline enrollment (2006–2008) of the Tehran Lipid and Glucose Study. Dietary intakes were assessed using a validated FFQ, and incident CVD (i.e., coronary heart disease, stroke, and CVD mortality) were documented through March 2018. Results A 7.1% incident of CVD occurred during a median follow-up of 10.6 y. After multivariable adjustment for traditional risk factors and key dietary nutrients, including total fat and fiber, Ox intakes ≥220 mg/d increased incident CVD (HR T3 vs. T1 = 1.47, 95% CI = 1.02–2.12). This association was potentiated (HR T3 vs. T1 = 2.42, 95% CI = 1.19–4.89) in subjects who had a lower intake of Ca (< 981 mg/d); in a low-Ca diet, an even lower amount of dietary Ox (second tertile, 148–220 mg/d) was related to increased CVD events by 92% (HR = 1.92, 95% CI = 1.00–3.70). No association was observed between dietary Ox and CVD events in the presence of medium- and high levels of Ca intakes. The critical cut-off point of Ox-to-Ca for predicting CVD events was 0.14, which was related to an increased risk of CVD by 37% (HR = 1.37, 95% CI = 1.02–1.84). Conclusion Higher dietary Ox intake appeared to be associated with a modestly elevated risk of incident CVD, especially in a diet with a lower amount of Ca.
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Affiliation(s)
- Zahra Bahadoran
- Nutrition and Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran
| | - Parvin Mirmiran
- Department of Clinical Nutrition and Dietetics, Faculty of Nutrition and Food Technology, National Nutrition and Food Technology Research Institute, Shahid Beheshti University of Medical Sciences, No. 24, Shahid-Erabi St., Yeman St., Velenjak, Tehran, Iran.
| | - Fereidoun Azizi
- Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran
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Rootman MS, Mozer-Glassberg Y, Gurevich M, Schwartz M, Konen O. Imaging features of primary hyperoxaluria. Clin Imaging 2018; 52:370-376. [PMID: 30253334 DOI: 10.1016/j.clinimag.2018.09.009] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/19/2018] [Revised: 09/11/2018] [Accepted: 09/14/2018] [Indexed: 01/18/2023]
Abstract
Primary hyperoxaluria (PH) is a group of autosomal recessive diseases that affect the metabolism of glyoxalate and oxalate. As a result of the enzymatic deficiency, there is overproduction and urinary excretion of oxalate with progressive renal damage and subsequent deposition of oxalate salts in various tissues. The definitive treatment in cases of end-stage kidney disease is a combined liver and kidney transplant. Imaging features are diverse and reflect the multiple organs that might be affected. These include nephrolithiasis and nephrocalcinosis, oxalate osteopathy, as well as other findings, such as splenomegaly and oxalate deposition in the heart. In this review article, we present various imaging findings that may appear in patients with PH.
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Affiliation(s)
- Mika Shapira Rootman
- Imaging department, Schneider Children's Medical Center of Israel, 14 Kaplan street, Petach Tikva, Israel.
| | - Yael Mozer-Glassberg
- The Institute of Gastroenterology, Nutrition and Liver Diseases, Schneider Children's Medical Center of Israel, 14 Kaplan street, Petach Tikva, Israel
| | - Michael Gurevich
- The Organ Transplantation Division, Schneider Children's Medical Center of Israel, 14 Kaplan street, Petach Tikva, Israel
| | - Michael Schwartz
- Imaging department, Schneider Children's Medical Center of Israel, 14 Kaplan street, Petach Tikva, Israel
| | - Osnat Konen
- Imaging department, Schneider Children's Medical Center of Israel, 14 Kaplan street, Petach Tikva, Israel
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An Unusual Presentation of a Child with Hyperoxaluria. ARCHIVES OF PEDIATRIC INFECTIOUS DISEASES 2018. [DOI: 10.5812/pedinfect.67357] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/16/2022]
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7
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Mitchell EP, Church ME, Nemser SM, Yakes BJ, Evans ER, Reimschuessel R, Lemberger K, Thompson PN, Terio KA. Pathology and Epidemiology of Oxalate Nephrosis in Cheetahs. Vet Pathol 2017; 54:977-985. [PMID: 28891390 DOI: 10.1177/0300985817728556] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/05/2023]
Abstract
To investigate cases of acute oxalate nephrosis without evidence of ethylene glycol exposure, archived data and tissues from cheetahs ( Acinonyx jubatus) from North America ( n = 297), southern Africa ( n = 257), and France ( n = 40) were evaluated. Renal and gastrointestinal tract lesions were characterized in a subset of animals with ( n = 100) and without ( n = 165) oxalate crystals at death. Crystals were confirmed as calcium oxalate by Raman spectroscopy in 45 of 47 cheetahs tested. Crystals were present in cheetahs from 3.7 months to 15.9 years old. Cheetahs younger than 1.5 years were less likely to have oxalates than older cheetahs ( P = .034), but young cheetahs with oxalates had more oxalate crystals than older cheetahs ( P < .001). Cheetahs with oxalate crystals were more likely to have renal amyloidosis, interstitial nephritis, or colitis and less likely to have glomerular loop thickening or gastritis than those without oxalates. Crystal number was positively associated with renal tubular necrosis ( P ≤ .001), regeneration ( P = .015), and casts ( P ≤ .001) but inversely associated with glomerulosclerosis, renal amyloidosis, and interstitial nephritis. Crystal number was unrelated to the presence or absence of colitis and was lower in southern African than American and European animals ( P = .01). This study found no evidence that coexisting chronic renal disease (amyloidosis, interstitial nephritis, or glomerulosclerosis), veno-occlusive disease, gastritis, or enterocolitis contributed significantly to oxalate nephrosis. Oxalate-related renal disease should be considered as a potential cause of acute renal failure, especially in young captive cheetahs. The role of location, diet, stress, and genetic predisposition in the pathogenesis of oxalate nephrosis in cheetahs warrants further study.
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Affiliation(s)
- Emily P Mitchell
- 1 Department of Research and Scientific Services, National Zoological Gardens of South Africa, Pretoria, South Africa.,2 Department of Paraclinical Sciences, Faculty of Veterinary Science, University of Pretoria, Pretoria, South Africa
| | - Molly E Church
- 3 Department of Pathology, Microbiology and Immunology, School of Veterinary Medicine, University of California, Davis, Davis, CA, USA
| | - Sarah M Nemser
- 4 Veterinary Laboratory Investigation and Response Network, Office of Research, Center for Veterinary Medicine, U.S. Food and Drug Administration, Laurel, MD, USA
| | - Betsy Jean Yakes
- 5 Office of Regulatory Science, Center for Food Safety and Applied Nutrition, U.S. Food and Drug Administration, College Park, MD, USA
| | - Eric R Evans
- 4 Veterinary Laboratory Investigation and Response Network, Office of Research, Center for Veterinary Medicine, U.S. Food and Drug Administration, Laurel, MD, USA
| | - Renate Reimschuessel
- 4 Veterinary Laboratory Investigation and Response Network, Office of Research, Center for Veterinary Medicine, U.S. Food and Drug Administration, Laurel, MD, USA
| | | | - Peter N Thompson
- 7 Department of Production Animal Studies, Faculty of Veterinary Science, University of Pretoria, Pretoria, South Africa
| | - Karen A Terio
- 8 Zoological Pathology Program, University of Illinois, Brookfield, IL, USA
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Alarcon A. Central nervous system involvement in primary hyperoxaluria demonstrated by brain ultrasonography. Eur J Paediatr Neurol 2017; 21:701-702. [PMID: 28728813 DOI: 10.1016/j.ejpn.2017.07.004] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/21/2023]
Affiliation(s)
- Ana Alarcon
- Servei de Neonatologia, Institut de Recerca Pediàtrica, Hospital Sant Joan de Déu, Barcelona, Spain.
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9
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Other crystal-related arthropathies. Rheumatology (Oxford) 2015. [DOI: 10.1016/b978-0-323-09138-1.00192-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/16/2022] Open
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10
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Glew RH, Sun Y, Horowitz BL, Konstantinov KN, Barry M, Fair JR, Massie L, Tzamaloukas AH. Nephropathy in dietary hyperoxaluria: A potentially preventable acute or chronic kidney disease. World J Nephrol 2014; 3:122-142. [PMID: 25374807 PMCID: PMC4220346 DOI: 10.5527/wjn.v3.i4.122] [Citation(s) in RCA: 45] [Impact Index Per Article: 4.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/26/2014] [Revised: 06/12/2014] [Accepted: 08/29/2014] [Indexed: 02/06/2023] Open
Abstract
Hyperoxaluria can cause not only nephrolithiasis and nephrocalcinosis, but also renal parenchymal disease histologically characterized by deposition of calcium oxalate crystals throughout the renal parenchyma, profound tubular damage and interstitial inflammation and fibrosis. Hyperoxaluric nephropathy presents clinically as acute or chronic renal failure that may progress to end-stage renal disease (ESRD). This sequence of events, well recognized in the past in primary and enteric hyperoxalurias, has also been documented in a few cases of dietary hyperoxaluria. Estimates of oxalate intake in patients with chronic dietary hyperoxaluria who developed chronic kidney disease or ESRD were comparable to the reported average oxalate content of the diets of certain populations worldwide, thus raising the question whether dietary hyperoxaluria is a primary cause of ESRD in these regions. Studies addressing this question have the potential of improving population health and should be undertaken, alongside ongoing studies which are yielding fresh insights into the mechanisms of intestinal absorption and renal excretion of oxalate, and into the mechanisms of development of oxalate-induced renal parenchymal disease. Novel preventive and therapeutic strategies for treating all types of hyperoxaluria are expected to develop from these studies.
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Tucker BM, Safadi S, Friedman AN. Is routine multivitamin supplementation necessary in US chronic adult hemodialysis patients? A systematic review. J Ren Nutr 2014; 25:257-64. [PMID: 25446839 DOI: 10.1053/j.jrn.2014.09.003] [Citation(s) in RCA: 19] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/19/2014] [Revised: 09/11/2014] [Accepted: 09/16/2014] [Indexed: 01/05/2023] Open
Abstract
Because of concern that United States (US) chronic hemodialysis patients are at high risk for the development of vitamin deficiencies, the great majority of such patients are routinely supplemented with a multivitamin. This policy is supported by major US dialysis providers and nonprofit organizations. Yet routine multivitamin supplementation expands hemodialysis patients' already large pill burden, probably accounts for many millions of dollars in annual costs, and in light of previous reports may even carry with it the possibility of increased risk of adverse outcomes. An analysis of the benefits of routine multivitamin supplementation in US patients is therefore in order. We performed a systematic review of the medical literature between 1970 and 2014 using the Ovid MEDLINE database to address this question. We conclude that there is insufficient evidence to support routine multivitamin use and recommend that the decision to supplement be made on an individual basis.
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Affiliation(s)
- Bryan M Tucker
- Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana
| | - Sami Safadi
- Department of Medicine, Mayo Clinic, Rochester, Minnesota
| | - Allon N Friedman
- Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana.
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Treatment of nongout joint deposition diseases: an update. ARTHRITIS 2014; 2014:375202. [PMID: 24895535 PMCID: PMC4034491 DOI: 10.1155/2014/375202] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 03/11/2014] [Accepted: 04/24/2014] [Indexed: 12/16/2022]
Abstract
This update develops the actual therapeutic options in the management of the joint involvement of calcium pyrophosphate deposition disease (CPPD), basic calcium phosphate (BCP) deposition disease, hemochromatosis (HH), ochronosis, oxalosis, and Wilson's disease. Conventional pharmaceutical treatment provides benefits for most diseases. Anti-interleukine-1 (IL-1) treatment could provide similar results in CPPD than in gout flares. There is only limited evidence about the efficacy of preventive long-term colchicine intake, methotrexate, and hydroxychloroquine in chronic CPPD. Needle aspiration and lavage have satisfactory short and midterm results in BCP. Extracorporeal shockwave therapy has also proved its efficacy for high-doses regimes. Phlebotomy does not seem to have shown real efficacy on joint involvement in HH so far. Iron chelators' effects have not been assessed on joint involvement either, while IL-1 blockade may prove useful. NSAIDs have limited efficacy on joint involvement of oxalosis, while colchicine and steroids have not been assessed either. The use of nitisinone for ochronotic arthropathy is still much debated, but it could provide beneficial effects on joint involvement. The effects of copper chelators have not been assessed either in the joint involvement of Wilson's disease. NSAIDs should be avoided because of the liver affection they may worsen.
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Abstract
Oxalate arthropathy is a rare cause of arthritis characterized by deposition of calcium oxalate crystals within synovial fluid. This condition typically occurs in patients with underlying primary or secondary hyperoxaluria. Primary hyperoxaluria constitutes a group of genetic disorders resulting in endogenous overproduction of oxalate, whereas secondary hyperoxaluria results from gastrointestinal disorders associated with fat malabsorption and increased absorption of dietary oxalate. In both conditions, oxalate crystals can deposit in the kidney leading to renal failure. Since oxalate is primarily renally eliminated, it accumulates throughout the body in renal failure, a state termed oxalosis. Affected organs can include bones, joints, heart, eyes, and skin. Since patients can present with renal failure and oxalosis before the underlying diagnosis of hyperoxaluria has been made, it is important to consider hyperoxaluria in patients who present with unexplained soft tissue crystal deposition. The best treatment of oxalosis is prevention. If patients present with advanced disease, treatment of oxalate arthritis consists of symptom management and control of the underlying disease process.
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Affiliation(s)
- Elizabeth C Lorenz
- Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA
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Horta-Baas G, Vargas-Gutiérrez C, Barile-Fabris L. Large joint destructive arthropathy and tumoral calcinosis associated to primary oxalosis: case report and literature review. REUMATOLOGIA CLINICA 2013; 9:181-185. [PMID: 23570963 DOI: 10.1016/j.reuma.2012.09.009] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 02/21/2012] [Revised: 09/13/2012] [Accepted: 09/19/2012] [Indexed: 06/02/2023]
Abstract
A case of destructive arthropathy of hips and shoulders with tumoral calcinosis associated with calcium oxalate deposits in a patient with primary oxalosis and end stage renal disease on hemodialysis.
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Affiliation(s)
- Gabriel Horta-Baas
- Departamento de Reumatología, Hospital de Especialidades, Centro Médico Nacional Siglo XXI, IMSS, México DF, México.
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15
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Determination of calcium in synovial fluid samples as an aid to diagnosing osteoarthritis. Bioanalysis 2011; 2:189-95. [PMID: 21083302 DOI: 10.4155/bio.09.163] [Citation(s) in RCA: 12] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/17/2022] Open
Abstract
BACKGROUND Microscopic inorganic crystals are commonly observed in the synovial fluid of patients suffering from arthritic diseases. Basic calcium phosphate (BCP) crystals are known to occur quite commonly in the joint fluid of osteoarthritis (OA) patients and are insoluble at physiological pH. Current analysis of patient synovial fluid depends on light microscopy and staining with Alizarin Red-S. Both methods cannot identify crystals < 1µm in size and are highly subjective. This article investigates the use of o-cresolphthalein complexone (OCP), a colorimetric reagent, to quantify calcium from crystals isolated from synovial fluid samples as a means of identifying the presence of BCP and, hence, improving the diagnosis of OA. RESULTS Inorganic crystals were isolated following degradation of the biological sample matrix with hyaluronidase. 1-M HNO(3) was used for crystal dissociation into ions and the colorimetric response of OCP to calcium was measured in a basic environment of 2-amino-2-methyl-1-propanol. The average calcium content in OA patient samples was up to 40% higher than in rheumatoid arthritis (RA) patient samples. RA samples were used as a comparison, because they are generally accepted to be crystal free. Within the OA group, higher levels of calcium were detected in three out of 12 synovial fluid samples, which correlated with a significantly greater number of BCP crystals detected during microscopic examination. CONCLUSIONS A simple method based on colorimetry for measurement of calcium content and semiquantification of BCP crystals in synovial fluid samples has been described. Sample pretreatment following addition of hyaluronidase proved to be effective in reducing viscosity and aiding the dissociation of BCP crystals in synovial fluid samples.
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16
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The kidney and rheumatic disease. Rheumatology (Oxford) 2011. [DOI: 10.1016/b978-0-323-06551-1.00037-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/30/2022] Open
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Abstract
Basic calcium phosphate (BCP) and calcium pyrophosphate dihydrate crystals are the most common types of pathologic crystals, followed by monosodium urate crystals and, in rare cases, calcium oxalate crystals. These crystals have been associated with a variety of quite different rheumatic syndromes. They are responsible for acute synovial inflammation and also contribute to cartilage degradation and bone lesions within the joint. Although understanding of the molecular mechanisms involved in generating the pathologic effects of these crystals has increased, the role of BCP crystals in particular remains poorly understood. The clinical implication of articular deposits of calcium-containing crystals in osteoarthritis is unknown. This review provides an overview of the clinical and pathological changes of these four different types of crystals.
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Munshi NM, Concepcion L, Narayanan M. Primary hyperoxaluria causing ESRD and gangrene of extremities leading to amputation. Hemodial Int 2009; 13:266-70. [PMID: 19549164 DOI: 10.1111/j.1542-4758.2009.00350.x] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/29/2022]
Abstract
Primary hyperoxaluria is an uncommon, inherited metabolic disorder due to hepatic enzyme deficiencies with consequent hepatic oxalate overproduction and attendant systemic complications. The diagnosis is established on a combination of clinical parameters, elevated urinary excretion of oxalate and glycolate and determination of alanine glyoxylate aminotransferase in the liver tissue. We describe a 45-year-old female with end-stage renal disease secondary to nephrolithiasis, who presented with a fulminating vascular syndrome before confirming the diagnosis of primary hyperoxaluria. This case illustrates that in this infrequent clinical entity, the diagnosis is often delayed with incorrect initial management.
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Affiliation(s)
- Nidhi M Munshi
- Department of Nephrology and Hypertension, Scott and White Memorial Hospital, Texas A&M University Health Science Center, Temple, Texas 76508, USA.
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Zouari N, Abroug S, Bouhlel R, Hassayoun S, Hmida RB, Nabli N, Bouslama A, Harbi A. [Cutaneous manifestations of primary hyperoxaluria]. Ann Dermatol Venereol 2008; 135:796-7. [PMID: 19061668 DOI: 10.1016/j.annder.2008.03.017] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/29/2007] [Accepted: 03/12/2008] [Indexed: 10/22/2022]
Affiliation(s)
- N Zouari
- Service de pédiatrie, CHU Sahloul, route de la ceinture, 4054 Sousse, Tunisie.
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El Hage S, Ghanem I, Baradhi A, Mourani C, Mallat S, Dagher F, Kharrat K. Skeletal features of primary hyperoxaluria type 1, revisited. J Child Orthop 2008; 2:205-10. [PMID: 19308578 PMCID: PMC2656805 DOI: 10.1007/s11832-008-0082-4] [Citation(s) in RCA: 19] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/22/2007] [Accepted: 01/19/2008] [Indexed: 02/03/2023] Open
Abstract
PURPOSE The purpose of this study was to describe the skeletal manifestations of primary hyperoxaluria type 1 (PH1), the most common of the primary hyperoxalurias. METHODS We clinically and radiographically reviewed 12 consecutive patients diagnosed with PH1, aged between 2 and 17 years. All patients had evidence of some type of renal involvement, 4 of whom were at end-stage renal disease (ESRD) and were under dialysis. RESULTS The main symptom was skeletal pain and was present only in the 4 severely involved patients and appeared during the second year of dialysis. The 2 most severely involved patients had evidence of pathological fractures. Radiological signs were present in patients with or without symptoms. These radiological signs were of two distinct types: those almost specific of oxalosis, such as dense and radiolucent metaphyseal bands and vertebral osteocondensations, which are found mainly in the severely involved individuals, and those less specific, such as signs of renal osteodystrophy, which are also found in less severely involved patients. Interestingly, our study revealed the presence of spondylolysis in 25% of cases. This latter finding is unique and has not previously been reported in the literature. CONCLUSIONS The skeletal manifestations of PH1 include specific and less specific radiological signs, with some patients being asymptomatic, and others presenting with bone pain and pathological fractures, as well as spondylolysis.
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Affiliation(s)
- Samer El Hage
| | - Ismat Ghanem
| | - André Baradhi
| | - Chebel Mourani
| | - Samir Mallat
| | - Fernand Dagher
| | - Khalil Kharrat
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21
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Yavorskyy A, Hernandez-Santana A, McCarthy G, McMahon G. Detection of calcium phosphate crystals in the joint fluid of patients with osteoarthritis - analytical approaches and challenges. Analyst 2008; 133:302-18. [PMID: 18299743 PMCID: PMC2625400 DOI: 10.1039/b716791a] [Citation(s) in RCA: 71] [Impact Index Per Article: 4.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/21/2022]
Abstract
Clinically, osteoarthritis (OA) is characterised by joint pain, stiffness after immobility, limitation of movement and, in many cases, the presence of basic calcium phosphate (BCP) crystals in the joint fluid. The detection of BCP crystals in the synovial fluid of patients with OA is fraught with challenges due to the submicroscopic size of BCP, the complex nature of the matrix in which they are found and the fact that other crystals can co-exist with them in cases of mixed pathology. Routine analysis of joint crystals still relies almost exclusively on the use of optical microscopy, which has limited applicability for BCP crystal identification due to limited resolution and the inherent subjectivity of the technique. The purpose of this Critical Review is to present an overview of some of the main analytical tools employed in the detection of BCP to date and the potential of emerging technologies such as atomic force microscopy (AFM) and Raman microspectroscopy for this purpose.
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Affiliation(s)
- Alexander Yavorskyy
- Bioanalytical Chemistry & Diagnostics Group, National Centre for Sensor Research, School of Chemical Sciences, Dublin City University, Dublin 9, Ireland. ; Tel: +353 1 7005914
| | - Aaron Hernandez-Santana
- Bioanalytical Chemistry & Diagnostics Group, National Centre for Sensor Research, School of Chemical Sciences, Dublin City University, Dublin 9, Ireland. ; Tel: +353 1 7005914
| | - Geraldine McCarthy
- Division of Rheumatology, Mater Misericordiae University Hospital, Eccles St, Dublin 7, Ireland
| | - Gillian McMahon
- Bioanalytical Chemistry & Diagnostics Group, National Centre for Sensor Research, School of Chemical Sciences, Dublin City University, Dublin 9, Ireland. ; Tel: +353 1 7005914
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Abstract
The evaluation of patients with subcutaneous nodules remains a diagnostic challenge. The presence of nodules can be a clue to an underlying systemic disease; however, the varied presentations of nodules and numerous disease associations make the assessment of patients with nodules far from simple. With further investigation into the appearance, location, and symptoms associated with nodules, the clinical significance of these lesions can become clearer and aid in logical diagnostic evaluation. We have reviewed the causes of nodules with emphasis on those associated with rheumatic disease and provide guidelines for nodule evaluation to better characterize disease association and lead to directed diagnostic assessment.
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Ogawa Y, Machida N, Ogawa T, Oda M, Hokama S, Chinen Y, Uchida A, Morozumi M, Sugaya K, Motoyoshi Y, Hattori M. Calcium oxalate saturation in dialysis patients with and without primary hyperoxaluria. ACTA ACUST UNITED AC 2006; 34:12-6. [PMID: 16432691 DOI: 10.1007/s00240-005-0004-6] [Citation(s) in RCA: 15] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/08/2005] [Accepted: 11/29/2005] [Indexed: 11/28/2022]
Abstract
Calcium oxalate supersaturation of the blood is associated with deposition of crystals in various tissues. We measured the serum levels of oxalate, citrate, calcium, and magnesium to estimate their saturation in 112 hemodialysis patients without primary hyperoxaluria and two boys with primary hyperoxaluria. Serum levels of oxalate and citrate were determined by high-performance capillary electrophoresis, while calcium and magnesium were measured by ICP spectroscopy. The serum levels of oxalate, citrate, calcium, and magnesium were 44.9+/-16.5, 138.1+/-54.9 micromol/l, 2.30+/-0.28, and 1.07+/-0.18 mmol/l, respectively, while the levels in patients with primary hyperoxaluria were 83.9+/-34.3, 197.9+/-63.5 micromol/l, 2.53+/-0.15, and 1.14+/-0.34 mmol/l, respectively. Serum calcium oxalate saturation (SS), as calculated by the Equil program, was significantly correlated with the serum oxalate level. Most patients showed metastable supersaturation (1<SS<8.9), which was associated with a serum oxalate level of more than 30 micromol/l. Serum saturation exceeded the formation product (SS=8.9) in some specimens from patients with type 1 primary hyperoxaluria. The serum calcium oxalate saturation [SS(CaOx)] showed a significant positive correlation with the levels of oxalate [Ox], calcium [Ca], and citrate [Cit]: [SS(CaOx)]=-0.3562+34.634[Ox]+0.394[Ca]-0.483[Mg]+0.101[Cit], (all mmol/l, r=0.9848, P<0.01). This formula is useful for estimating the saturation. In conclusion, the serum oxalate level is a good indicator of calcium oxalate saturation and should be monitored accurately while keeping it lower in dialysis patients.
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Affiliation(s)
- Yoshihide Ogawa
- Department of Urology, Faculty of Medicine, University of the Ryukyus, Uehara 207, 903-0215, Nishihara-cho, Okinawa-ken, Japan.
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Lee HW, Lee DK, Lee MW, Choi JH, Koh JK. Multiple subcutaneous nodules with an infrapatellar mass. Clin Exp Dermatol 2005; 31:159-60. [PMID: 16309530 DOI: 10.1111/j.1365-2230.2005.01909.x] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/30/2022]
Affiliation(s)
- H-W Lee
- Department of Dermatology, Asan Medical Center, College of Medicine, University of Ulsan, Seoul, Korea
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Herrmann G, Krieg T, Weber M, Sidhu H, Hoppe B. Unusual painful sclerotic plaques on the legs of a patient with late diagnosis of primary hyperoxaluria type I. Br J Dermatol 2005; 151:1104-7. [PMID: 15541098 DOI: 10.1111/j.1365-2133.2004.06247.x] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/29/2022]
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Parr CJ, Miller FJ, Gregory MC, Yoon HC. SIR 2004 film panel case: Primary hyperoxaluria type I mimicking arterial vasculitis--a lethal disease. J Vasc Interv Radiol 2004; 15:1017-20. [PMID: 15361574 DOI: 10.1097/01.rvi.0000135866.37203.50] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/25/2022] Open
Affiliation(s)
- Christopher J Parr
- Department of Radiology, University of Utah, 50 North Medical Drive, Salt Lake City, UT 84132, USA
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Mpofu S, Rhodes JM, Mpofu CMA, Moots RJ. An unusual cause of acute renal failure in systemic sclerosis. Ann Rheum Dis 2003; 62:1133-4. [PMID: 14644848 PMCID: PMC1754390 DOI: 10.1136/ard.2002.002295] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/03/2022]
Abstract
BACKGROUND Scleroderma renal crisis is one of the most life threatening complications of scleroderma. Enteric hyperoxaluria complicates extensive disease or resection of the small intestine in the presence of an intact colon, and is associated with calcium oxalate nephrolithiasis. This cause of renal failure may be underestimated and should be considered in all patients with malabsorption and renal failure. CASE REPORT A 78 year old woman with systemic sclerosis affecting the bowel developed acute renal failure caused by oxalate nephropathy. RESULTS The patient's renal failure improved on an oxalate free diet.
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Affiliation(s)
- S Mpofu
- University Hospital Aintree, Academic Rheumatology Unit, University of Liverpool, Liverpool L9 7AL, UK.
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