威尔逊氏病的药物治疗进展

Progress in drug therapy of Wilson's disease

威尔逊氏病,也称肝豆状核变性,是一种由ATP7B基因纯合变异或复合杂合变异导致的遗传性铜代谢障碍性疾病,临床主要表现为肝脏疾病和/或神经/心理疾病,角膜周围可见K-F环等。目前肝豆状核变性患者通过终身使用促进铜离子排出的螯合剂和/或减少铜吸收的锌剂来治疗,但临床上仍存在未被满足的需求,因为一些接受常规药物治疗的患者疗效不佳、疾病进展或者出现严重的药物不良反应。近年来,新型治疗药物正在快速开发中。该文对威尔逊氏病的药物治疗进展进行简要综述,给威尔逊氏病治疗带来新的希望。

Wilson's disease,also known as hepatolenticular degeneration,is an inherited disorder of copper metabolism caused by homozygous or compound heterozygous variants in the ATP7B gene,which is mainly clinically manifested as liver disease and/or neurological/psychological disorders,and Kayser-Fleischer ring in the peripheral cornea.Patients with Wilson's disease are currently treated with lifelong use of chelating agents that promote copper ion excretion and/or zinc agents that reduce copper absorption,but there is still an unmet clinical need because some patients who receive treatment have poor efficacy,disease progression,or serious adverse drug reactions.In recent years,new therapeutic drugs have been developed rapidly.This article will summarize the advances in drug treatment of Wilson's disease,shedding new light on the treatment of Wilson's disease.