Ala Aftab, Walker Ann P, Ashkan Keyoumars, Dooley James S, Schilsky Michael L
UCL Institute of Hepatology, Hampstead Campus, Division of Medicine, Royal Free and University College Medical School, University College London, London, UK.
Lancet. 2007 Feb 3;369(9559):397-408. doi: 10.1016/S0140-6736(07)60196-2.
Progressive hepatolenticular degeneration, or Wilson's disease, is a genetic disorder of copper metabolism. Knowledge of the clinical presentations and treatment of the disease are important both to the generalist and to specialists in gastroenterology and hepatology, neurology, psychiatry, and paediatrics. Wilson's disease invariably results in severe disability and death if untreated. The diagnosis is easily overlooked but if discovered early, effective treatments are available that will prevent or reverse many manifestations of this disorder. Studies have identified the role of copper in disease pathogenesis and clinical, biochemical, and genetic markers that can be useful in diagnosis. There are several chelating agents and zinc salts for medical therapy. Liver transplantation corrects the underlying pathophysiology and can be lifesaving. The discovery of the Wilson's disease gene has opened up a new molecular diagnostic approach, and could form the basis of future gene therapy.
进行性肝豆状核变性，即威尔逊病，是一种铜代谢的遗传性疾病。了解该疾病的临床表现和治疗方法，对普通医生以及胃肠病学与肝病学、神经病学、精神病学和儿科学领域的专科医生都很重要。威尔逊病若不治疗，必然会导致严重残疾甚至死亡。该疾病的诊断很容易被忽视，但如果早期发现，有有效的治疗方法可以预防或逆转这种疾病的许多表现。研究已经确定了铜在疾病发病机制中的作用以及对诊断有用的临床、生化和基因标志物。有几种螯合剂和锌盐可用于药物治疗。肝移植可纠正潜在的病理生理学问题，且可能挽救生命。威尔逊病基因的发现开辟了一种新的分子诊断方法，并可能成为未来基因治疗的基础。
