Wilson's disease:Revisiting an old friend  

作　　者：Ana Lucena-Valera Domingo Perez-Palacios Rocio Muñoz-Hernandez Manuel Romero-Gómez Javier Ampuero 

机构地区：[1]Department of Gastroenterology,Hospital Universitario Virgen del Rocio,Sevilla 41013,Spain [2]SeLiver Group,Instituto de Biomedicina de Sevilla(IBiS),Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla,Sevilla,España [3]Department of Unit of Digestive Diseases,Hospital Universitario Virgen del Rocio,Sevilla 41014,Spain

出　　处：《World Journal of Hepatology》2021年第6期634-649,共16页世界肝病学杂志（英文版）（电子版）

基　　金：Consejería de Salud.Junta de Andalucía,No.PI_0039_2017;Junta de andalucia,No.201799903406796.

摘　　要：Wilson's disease(WD)is a rare condition caused by copper accumulation primarily in the liver and secondly in other organs,such as the central nervous system.It is a hereditary autosomal recessive disease caused by a deficiency in the ATP7B transporter.This protein facilitates the incorporation of copper into ceruloplasmin.More than 800 mutations associated with WD have been described.The onset of the disease frequently includes manifestations related to the liver(as chronic liver disease or acute liver failure)and neurological symptoms,although it can sometimes be asymptomatic.Despite it being more frequent in young people,WD has been described in all life stages.Due to its fatal prognosis,WD should be suspected in all patients with unexplained biochemical liver abnormalities or neurological or psychiatric symptoms.The diagnosis is established with a combination of clinical signs and tests,including the measurement of ceruloplasmin,urinary copper excretion,copper quantification in liver biopsy,or genetic assessment.The pharmacological therapies include chelating drugs,such as D-penicillamine or trientine,and zinc salts,which are able to change the natural history of the disease,increasing the survival of these patients.In some cases of end-stage liver disease or acute liver failure,liver transplantation must be an option to increase survival.In this narrative review,we offer an overview of WD,focusing on the importance of clinical suspicion,the correct diagnosis,and treatment.

关 键 词：Wilson´s disease Copper ATP7B CERULOPLASMIN CHELATOR Liver disease 

分 类 号：R57[医药卫生—消化系统]