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
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.
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
出版年
2024
国家科技期刊平台
NSTL
万方数据