Sci Prog. 2013;96(Pt 1):19-32. doi: 10.3184/003685013X13587771579987.
Wilson's disease is a rare autosomal recessive disease characterised by the deposition of copper in the brain, liver; cornea, and other organs. The overload of copper inevitably leads to progressive liver and neurological dysfunction. Copper overload in patients with Wilson's disease is caused by impairment to the biliary route for excretion of dietary copper A combination of neurological, psychiatric and hepatic symptoms can make the diagnosis of Wilson's disease challenging. Most symptoms appear in the second and third decades of life. The disease affects between one in 30,000 and one in 100,000 individuals, and is fatal if left untreated. Five drugs are currently available to treat Wilson's disease: British Anti-Lewisite; D-penicillamine; trientine; zinc sulfate or acetate; and ammonium tetrathiomolybdate. Each drug can reduce copper levels and/or transform copper into a metabolically inert and unavailable form in the patient. The discovery and introduction of these five drugs owes more to the inspiration of a few dedicated physicians and agricultural scientists than to the resources of the pharmaceutical industry.
威尔逊病是一种罕见的常染色体隐性遗传病，其特征是铜在脑、肝、角膜和其他器官中的沉积。铜的过载不可避免地导致进行性肝和神经功能障碍。威尔逊病患者的铜过载是由于胆道排泄饮食铜的能力受损引起的。神经、精神和肝脏症状的组合使得威尔逊病的诊断具有挑战性。大多数症状出现在生命的第二和第三个十年。这种疾病影响每 30,000 到 100,000 人中的 1 人，如果不治疗则会致命。目前有五种药物可用于治疗威尔逊病：二巯丁二酸；二巯丁二钠；曲恩汀；硫酸锌或醋酸锌；和四硫钼酸铵。每种药物都可以降低铜的水平，和/或将铜转化为患者体内代谢惰性和不可用的形式。这五种药物的发现和引入更多地归功于少数敬业的医生和农业科学家的启发，而不是制药行业的资源。
