Gilbert综合征误诊为原发性胆汁性胆管炎1例并文献复习  

A case report of Gilbert syndrome misdiagnosed as primary biliary cholangitis and literature review

作　　者：李洪杰 高学松 刘楠 张亦瑾 高丽丽 高萍 段雪飞 LI Hong-jie;GAO Xue-song;LIU Nan;ZHANG Yi-jin;GAO Li-li;GAO Ping;DUAN Xue-fei(Department of General Medicine,Beijing Ditan Hospital,Capital Medical University,Beijing 100015,China)

机构地区：[1]首都医科大学附属北京地坛医院综合科

出　　处：《中国肝脏病杂志（电子版）》2019年第4期90-93,共4页Chinese Journal of Liver Diseases：Electronic Version

基　　金：国家“十三五”传染病防治科技重大专项（2018ZX10715-005）;北京市卫生系统高层次卫生技术人才培养项目（2014-3-093）

摘　　要：Gilbert综合征是一种常染色体显性遗传疾病,是由UGT1A1基因突变引起的肝脏胆红素代谢障碍,从而导致间接胆红素水平升高。Gilbert综合征最常见的基因型是UGT1A1基因启动子上的纯合多态性A(TA)7TAA,即TA插入UGT1A1*28的启动子上。Gilbert综合征的诊断一般为排除诊断,目前可进行分子遗传学检测。现报道1例首诊原发性胆汁性胆管炎,最终确诊为Gilbert综合征患者的临床资料并回顾相关文献进行分析。Gilbert syndrome is a autosomal dominant hereditary disease, which is a liver disorder caused by a genetic mutation of the bilirubin UDP-glucuronosyltransferase(UGT1 A1) gene, which results in elevated levels of unconjugated bilirubin. The most common genotype of Gilbert syndrome is the homozygous polymorphism A(TA)7 TAA in the promoter of gene UGT1 A1, which is a TA insertion into the promoter designated UGT1 A1*28. Generally, the diagnosis of the syndrome is one of exclusion, genetic tests can now be used when there is a diagnostic problem. In this paper, a case of Gilbert syndrome misdiagnosed as primary biliary cholangitis was reported and the involved literatures were reviewed and analyzed.

关 键 词：GILBERT综合征 原发性胆汁性胆管炎 文献复习 

分 类 号：R73[医药卫生—肿瘤]