基因突变致胆汁酸代谢异常相关发生机制的研究进展  

Research advances in the mechanism of abnormal bile acid metabolism caused by gene mutation

作　　者：易波 李雪 汤善宏 YI Bo;LI Xue;TANG Shanhong(Chengdu Medical College,Chengdu 610500,China;Department of Gastroenterology,The General Hospital of Western Theater Command,Chengdu 610083,China;School of Medicine and Life Science,Chengdu University of Traditional Chinese Medicine,Chengdu 610072,China)

机构地区：[1]成都医学院,成都610500 [2]中国人民解放军西部战区总医院消化内科,成都610083 [3]成都中医药大学医学与生命科学学院,成都610072

出　　处：《临床肝胆病杂志》2022年第9期2136-2140,共5页Journal of Clinical Hepatology

基　　金：四川省卫生健康委员会科研课题(20PJ180)。

摘　　要：胆汁酸由肝脏合成并分解代谢,诸多原因均可导致其生成、分泌及重吸收障碍,进而引起体内胆汁酸代谢异常。常见诱因包括肝炎、病毒、酒精、药物、胆道梗阻及遗传等。目前已有研究报道胆汁酸代谢异常与转运蛋白基因突变存在联系,国内外对此均进行了深入研究。本文主要对基因突变所致胆汁酸代谢异常的发生机制及相关研究进展作一综述,为阐明此类疾病的诊断和治疗提供新依据及新思路。Bile acids are synthesized and catabolized by the liver,and many factors can lead to disorders in the production,secretion,and reabsorption of bile acids,thereby causing abnormal bile acid metabolism in vivo.Common predisposing factors include hepatitis,viruses,alcohol,drugs,biliary obstruction,and inheritance.It has been reported that abnormal bile acid metabolism is associated with transporter gene mutation,and in-depth studies have been conducted in China and globally.This article reviews the mechanism of abnormal bile acid metabolism caused by gene mutations and related research advances,so as to provide a new basis and new ideas for the diagnosis and treatment of such diseases.

关 键 词：胆汁酸类和盐类 胆汁淤积 代谢 突变 

分 类 号：R575[医药卫生—消化系统]