临床肝胆病杂志2024，Vol.40Issue(3)：585-588,4.DOI:10.12449/JCH240324
ATP结合盒亚家族B成员4(ABCB4)基因突变相关性肝硬化合并胆囊结石1例报告
ABCB4 gene mutation-associated liver cirrhosis with gallstones:A case report
刘文迪 1王芃 1胡和平 1周华邦1
作者信息
- 1. 海军军医大学东方肝胆外科医院肝胆内科,上海 200438
- 折叠
摘要
Abstract
The disease spectrum of ABCB4 gene mutation involves various diseases such as progressive familial intrahepatic cholestasis type 3(PFIC3),gallstone disease,intrahepatic cholestasis of pregnancy,portal hypertension,liver cirrhosis,and even primary hepatic and biliary malignancies.A young male patient was admitted to Department of Hepatobiliary Medicine,Eastern Hepatobiliary Surgery Hospital,and was initially diagnosed with liver cirrhosis and gallstones,and he was planned to receive laparoscopic cholecystectomy.Preoperative examination showed abnormal liver function,liver cirrhosis,splenomegaly,and mild esophageal varices,and next-generation sequencing was performed to make a confirmed diagnosis of ABCB4 gene mutation-associated liver cirrhosis with gallstones.The liver function of the patient gradually returned to normal after cholagogic treatment with ursodeoxycholic acid capsules.关键词
ABCB4基因/突变/多药耐药相关蛋白质类/肝硬化/胆石Key words
ABCB4 Gene/Mutation/Multidrug Resistance-Associated Proteins/Liver Cirrhosis/Gallstones引用本文复制引用
刘文迪,王芃,胡和平,周华邦..ATP结合盒亚家族B成员4(ABCB4)基因突变相关性肝硬化合并胆囊结石1例报告[J].临床肝胆病杂志,2024,40(3):585-588,4.
