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

作　　者：刘文迪 王芃 胡和平 周华邦 LIU Wendi;WANG Peng;HU Heping;ZHOU Huabang(Department of Hepatobiliary Medicine,Eastern Hepatobiliary Surgery Hospital,Navy Medical University,Shanghai 200438,China)

机构地区：[1]海军军医大学东方肝胆外科医院肝胆内科,上海200438

出　　处：《临床肝胆病杂志》2024年第3期585-588,共4页Journal of Clinical Hepatology

摘　　要：ATP结合盒亚家族B成员4(ABCB4)基因突变疾病谱涉及进行性家族性肝内胆汁淤积3型、胆石症、妊娠期肝内胆汁淤积症、门静脉高压、肝硬化,甚至原发性肝脏、胆道恶性肿瘤等多种疾病。本院肝胆内科收治1例青年男性患者,入院初步诊断为胆囊结石,计划腹腔镜胆囊切除术,术前检查发现该患者肝功能异常、肝硬化、脾大、食管静脉轻度曲张,后进一步行二代测序明确诊断为ABCB4基因突变相关性肝硬化合并胆囊结石,给予熊去氧胆酸胶囊利胆治疗后,肝功能逐渐恢复正常。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 

分 类 号：R575.2[医药卫生—消化系统] R575.62[医药卫生—内科学]