Postoperative jaundice related to UGT1A1 and ABCB11 gene mutations:A case report and literature review  

作　　者：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 

机构地区：[1]Department of Infectious Diseases,Affiliated Hospital of Zunyi Medical University,Zunyi 563000,Guizhou Province,China [2]Department of Infectious Diseases,People's Hospital Qiandongnan Miao and Dong Autonomous Prefecture,Kaili 556000,Guizhou Province,China [3]Department of Radiology,Affiliated Hospital of Zunyi Medical University,Zunyi 563000,Guizhou Province,China [4]Department of Gastroenterology,First People’s Hospital of Jinmen,Jinmen 448000,Hubei Province,China

出　　处：《World Journal of Clinical Cases》2023年第6期1393-1402,共10页世界临床病例杂志

基　　金：Supported by The Science and Technology Planning Projects of Guizhou Province and Zunyi City,No.QKHJCZK[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.

摘　　要：BACKGROUND Patients with obstructive jaundice caused by intrahepatic bile duct stones can be effectively managed by surgery.However,some patients may develop postope-rative complications,liver failure,and other life-threatening situations.Here,we report a patient with mutations in the uridine 5’-diphospho-glucuronosyltrans-ferase 1A1(UGT1A1)and bile salt export pump(adenosine triphosphate-binding cassette subfamily B member 11,ABCB11)genes who presented multiple intrahe-patic 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

关 键 词：CHOLESTASIS Intrahepatic bile duct stones Postoperative jaundice adenosine triphosphatebinding cassette subfamily B member 11 Uridine 5’-diphospho-glucuronosyltransferase 1A1 Case report 

分 类 号：R657.4[医药卫生—外科学]