肝豆状核变性是一种可治疗的常染色体隐性遗传病。临床以肝脏、中枢神经系统损害为主；肝铜含量测定、２４小时尿铜排泄量、角膜Ｋ－Ｆ环、血清铜蓝蛋白测定仍是诊断此病可靠的依据；基因诊断能提高此病出现症状前及无症状杂合子的诊断。影像技术对判断其发病机制、诊断及治疗转归有益。锌剂、螯合剂是治疗本病的最安全有效的方法。 Hepatolenticular degeneration is a treatable autosomal recessive disease. Clinical liver and central nervous system damage; liver copper content determination, 24-hour urinary copper excretion, corneal K-F ring, serum ceruloplasmin determination is still a reliable basis for the diagnosis of the disease; genetic diagnosis can improve the disease Symptoms before and asymptomatic heterozygous diagnosis. Imaging technology to determine the pathogenesis, diagnosis and treatment of prognosis. Zinc agents, chelating agents is the safest and most effective way to treat this disease.