Department of Neurology, University of Michigan Health Systems, Ann Arbor, MI 48109-5316, USA.
Semin Neurol. 2012 Nov;32(5):538-43. doi: 10.1055/s-0033-1334476. Epub 2013 May 15.
As Wilson's disease is both preventable and treatable, the diagnosis must not be missed. Despite this, it is usually misdiagnosed. Misdiagnosis and delay in treatment are clinically relevant because if left untreated, Wilson's disease progresses to hepatic failure or severe neurologic disability, and death. Those adequately treated have a normal life span. Wilson's disease is an autosomal recessive disease caused by mutations in the ATP7B gene. Mutations in ATP7B result in abnormal copper metabolism and subsequent toxic accumulation of copper. The clinical manifestations of neurologic Wilson's disease include variable combinations of dysarthria, dystonia, tremor, parkinsonism, ataxia, and choreoathetosis. Once the possibility of Wilson's disease is considered, diagnosis is straight forward. Currently available treatments, including zinc acetate and trientine, are generally well tolerated and effective.
由于威尔逊病既可以预防，也可以治疗，因此绝不能漏诊。尽管如此，它通常还是会被误诊。误诊和治疗延误在临床上是很重要的，因为如果不治疗，威尔逊病会进展为肝衰竭或严重的神经功能障碍，甚至导致死亡。而那些经过充分治疗的患者则可以拥有正常的寿命。威尔逊病是一种常染色体隐性遗传病，由 ATP7B 基因突变引起。ATP7B 基因突变导致铜代谢异常，随后铜毒性蓄积。神经型威尔逊病的临床表现包括构音障碍、肌张力障碍、震颤、帕金森病、共济失调和舞蹈手足徐动症等多种组合。一旦考虑到威尔逊病的可能性，诊断就很简单了。目前可用的治疗方法，包括醋酸锌和曲恩汀，通常都具有良好的耐受性和疗效。
