Ala Aftab, Schilsky Michael L
Division of Liver Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA.
Clin Liver Dis. 2004 Nov;8(4):787-805, viii. doi: 10.1016/j.cld.2004.06.005.
Wilson disease is an autosomal recessive condition of copper metabolism that was once considered fatal. The identification of the gene for Wilson disease has led to a better understanding of the molecular defect underlying this disorder and has impacted on disease diagnosis for some individuals. Medical therapy with chelating agents or zinc salts remains the mainstay of therapy for most patients, and liver transplant is lifesaving for those with advanced disease refractory to medical therapy or with fulminant hepatic failure. Future cell-based and genetic therapies may provide a cure for this disorder.
威尔逊病是一种常染色体隐性铜代谢疾病，曾被认为是致命的。威尔逊病基因的鉴定使人们对该疾病潜在的分子缺陷有了更好的理解，并对一些患者的疾病诊断产生了影响。对大多数患者而言，使用螯合剂或锌盐进行药物治疗仍然是主要的治疗方法，对于那些药物治疗无效的晚期患者或暴发性肝衰竭患者，肝移植是挽救生命的方法。未来基于细胞和基因的疗法可能会治愈这种疾病。
