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OACSTPCD

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.