肝豆状核变性诊治现状

摘要

Wilson's disease (WD), which has high mortality, is an autosomal recessive disease. The aetiologi-cal agent is the loss of function or receding of ATP7B gene mutation. Clinical manifestations of WD include liver cir-rhosis, vertebral body symptoms, and corneal pigmentation. Early diagnosis and early treatment are important for pa-tients with WD. The most effective method for patients with advanced disease is liver transplantation.%肝豆状核变性(WD)是一种常染色体隐性遗传病，病死率高。因ATP7B基因突变导致ATP7B功能丧失或减弱而致病，临床表现为肝硬化、椎体外系症状、角膜色素沉着环等，该病必须早期诊断、早期治疗，晚期患者目前最有效的方法是肝移植。