肝豆状核变性的治疗现状  

Latest advances in the treatment of hepatolenticular degeneration

作　　者：周思敏 郭丽萍[1] 蔡王锋 周璐[1] 王邦茂[1] ZHOU Simin;GUO Liping;CAI Wangfeng(Department of Gastroenterology,Tianjin Medical University General Hospital,Tianjin 300052,China)

机构地区：[1]天津医科大学总医院消化科

出　　处：《临床肝胆病杂志》2020年第1期218-221,共4页Journal of Clinical Hepatology

基　　金：国家自然科学基金地区基金项目(81860109)

摘　　要：肝豆状核变性(HLD)是一种与铜代谢障碍有关的常染色体隐性遗传性肝病。13号染色体ATP7B基因突变导致铜离子跨膜转运出现障碍,进而导致过量的铜在肝脏、脑、角膜、肾脏、骨关节沉积(以肝脏和脑部的铜沉积为主)。早期诊断、早期治疗可以显著减少组织损害,改善患者预后。2008年美国肝病学会、2012年欧洲肝病学会分别发布了肝豆状核变性的诊治指南。在此基础上,汇总了国内外新近的研究进展,对肝豆状核变性的治疗做出了全面的综述。Hepatolenticular degeneration(HLD) is an autosomal recessive liver disease associated with copper metabolism disorders. Mutations in the ATP7 B gene on chromosome 13 result in impaired transmembrane transport of copper ions,which in turn leads to excessive deposition of copper in the liver,brain,cornea,kidney,and bone joints(mainly in the liver and the brain). Early diagnosis and treatment can significantly reduce tissue damage and improve the prognosis of patients. American Association for the Study of Liver Diseases issued the guidelines for the diagnosis and treatment of HLD in 2008,and the European Association for the Study of the Liver released such guidelines in 2012. This article summarizes the recent research advances in China and foreign countries to give an overview of the treatment of HLD.

关 键 词：肝豆状核变性 早期诊断 治疗学 

分 类 号：R575.5[医药卫生—消化系统]