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©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
Postoperative jaundice related to UGT1A1 and ABCB11 gene mutations: A case report and literature review
Jin-Lian Jiang, Xia Liu, Zhong-Qin Pan, Xiao-Ling Jiang, Jun-Hua Shi, Ya Chen, Yu Yi, Wei-Wei Zhong, Kang-Yan Liu, Yi-Huai He
Jin-Lian Jiang, Xia Liu, Xiao-Ling Jiang, Ya Chen, Yu Yi, Kang-Yan Liu, Yi-Huai He, Department of Infectious Diseases, Affiliated Hospital of Zunyi Medical University, Zunyi 563000, Guizhou Province, China
Zhong-Qin Pan, Department of Infectious Diseases, People's Hospital Qiandongnan Miao and Dong Autonomous Prefecture, Kaili 556000, Guizhou Province, China
Jun-Hua Shi, Department of Radiology, Affiliated Hospital of Zunyi Medical University, Zunyi 563000, Guizhou Province, China
Wei-Wei Zhong, Department of Gastroenterology, First People’s Hospital of Jinmen, Jinmen 448000, Hubei Province, China
Author contributions: Jiang JL and Liu X contributed equally to this work; Jiang JL, Liu X, Jiang XL, and Yi Y collected medical history; Chen Y and Zhong WW summarized and analyzed the medical history data; He YH and Jiang JL conceived and designed the content of the article; Jiang JL and Liu X wrote the initial paper; He YH, Liu KY, Shi JH, and Pan ZQ revised the paper; He YH had primary responsibility for final content; All authors read and approved the final manuscript.
Supported by The Science and Technology Planning Projects of Guizhou Province and Zunyi City, No. QKHJC-ZK[2022]YB642, No. ZSKH·HZ(2022)344, No. gzwjkj2021-071, ZMC·YZ[2018]38, No. ZSKH·HZ[2021]58, and No. ZSKH·HZ[2021]60; The General Project of Hubei Province and Jingmen City, No. 2021YFYB074.
Informed consent statement: Written informed consent was obtained from the patient for the publication of this case report.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
https://creativecommons.org/Licenses/by-nc/4.0/ Corresponding author: Yi-Huai He, MD, Director, Department of Infectious Diseases, Affiliated Hospital of Zunyi Medical University, No. 149 Dalian Road, Huichuan District, Zunyi 563000, Guizhou Province, China. 993565989@qq.com
Received: November 8, 2022
Peer-review started: November 8, 2022
First decision: November 24, 2022
Revised: December 7, 2022
Accepted: February 2, 2023
Article in press: February 2, 2023
Published online: February 26, 2023
BACKGROUND
Patients with obstructive jaundice caused by intrahepatic bile duct stones can be effectively managed by surgery. However, some patients may develop postoperative complications, liver failure, and other life-threatening situations. Here, we report a patient with mutations in the uridine 5’-diphospho-glucuronosyltransferase 1A1 (UGT1A1) and bile salt export pump (adenosine triphosphate-binding cassette subfamily B member 11, ABCB11) genes who presented multiple intrahepatic bile duct stones and cholestasis, and the jaundice of the patient increased after partial hepatectomy.
CASE SUMMARY
A 52-year-old male patient admitted to the hospital on October 23, 2021, with a progressive exacerbation of jaundice, was found to have multiple intrahepatic bile duct stones with the diagnoses of obstructive jaundice and acute cholecystitis. Subsequently, the patient underwent left hepatectomy with biliary exploration, stone extraction, T-tube drainage, and cholecystectomy without developing any intraoperative complications. The patient had a dark urine color with worsening jaundice postoperatively and did not respond well to plasma exchange and other symptomatic and supportive treatments. Since the progressive increase in postoperative bilirubin could not be clinically explained with any potential reason, including, if not at all, viral infection, cholangitis, autoimmune liver disease, and other causes, the patient underwent whole-exon screening for any genetic diseases, which surprisingly identified UGT1A1 and ABCB11 gene mutations related to glucuronidation of indirect bilirubin as well as bile acid transport in hepatocytes, respectively. Thus, we hypothesized that postoperative refractory cholestasis might result from UGT1A1 and ABCB11 gene mutations and further recommended liver transplantation to the patient, who eventually declined it and died from liver failure six months later.
CONCLUSION
Surgery may aggravate cholestasis in patients with multiple intrahepatic bile duct stones and cholestasis associated with UGT1A1 and ABCB11 gene mutations. A liver transplant may be the best option if active medical treatment fails.
Core Tip: We presented a case of multiple intrahepatic bile duct stones, cholestasis, and progressive jaundice after surgical treatment, which was diagnosed upon the finding of adenosine triphosphate-binding cassette subfamily B member 11 (ABCB11) and uridine 5’-diphospho-glucuronosyltransferase 1A1 (UGT1A1) gene mutation from the genetic study. Since the patient refused to undergo liver transplantation, his postoperative aggravating jaundice was medically managed, but he soon died due to liver failure. The UGT1A1 gene is related to the glucuronidation of indirect bilirubin. Its mutation leads to increased indirect bilirubin, while the ABCB11 gene is involved in bile transport, and its mutation may lead to disturbance of bile acid transport, changes in bile composition, cholestasis, and the formation of intrahepatic bile duct stones. Surgical treatment in such patients may induce exacerbation of cholestasis, and liver transplantation should be the preferred treatment if medical management fails.
