Gilbert综合征UGT1A1基因突变特征及对肝脏和肝外系统的影响  

Research advances in mutation characteristics of the UGT1A1 gene in Gilbert syndrome and its influence on intrahepatic and extrahepatic systems

作　　者：梁晨 白丽 郑素军 LIANG Chen;BAI Li;ZHENG Sujun(Intractable Hepatic Diseases and Artificial Liver Treatment & Training Center,Beijing Municipal Key Laboratory of Liver Failure and Artificial Liver Treatment Research,Beijing YouAn Hospital,Capital Medical University,Beijing 100069,China)

机构地区：[1]首都医科大学附属北京佑安医院疑难肝病及人工肝中心肝衰竭与人工肝治疗研究北京市重点实验室

出　　处：《临床肝胆病杂志》2019年第7期1632-1635,共4页Journal of Clinical Hepatology

基　　金：北京市医院管理局消化内科学科协同发展中心项目(XXZ0503),北京市医院管理局“登峰”人才培养计划基金资助项目(DFL20151601);北京市医院管理局临床医学发展专项经费资助(ZYLX201806);科技创新服务能力建设-高精尖学科建设项目(市级)(11920703);十三五国家科技重大专项(2012ZX10002004-006,2017ZX10203201-005,2017ZX10201201,2017ZX10202203-006-001,2017ZX10302201-004-002);国家重点研发计划资助(2017YFA0103000)

摘　　要：Gilbert综合征是最常见的遗传性高胆红素血症,发病率较高。简述了Gilbert综合征的流行病学特征、常见的尿苷二磷酸葡萄糖醛酸转移酶(UGT)1A1基因突变位点以及Gilbert综合征对肝脏本身及肝外疾病的影响进展,并认为这对Gilbert综合征的诊疗及某些肝脏及肝外疾病的防治具有重要意义。Gilbert syndrome is the most common type of hereditary hyperbilirubinemia with a high incidence rate. This article briefly describes the research advances in epidemiological characteristics of Gilbert syndrome, common UGT1A1 gene mutation sites, and the influence of Gilbert syndrome on intrahepatic and extrahepatic diseases. It is pointed out that an understanding of these aspects plays an important role in the diagnosis and treatment of Gilbert syndrome and the prevention and treatment of intrahepatic and extrahepatic diseases.

关 键 词：吉尔伯特病 高胆红素血症 突变 尿苷二磷酸葡萄糖醛酸转移酶 

分 类 号：R589[医药卫生—内分泌]