Wilson's disease and other neurological copper disorders.
Wilson's disease and other neurological copper disorders.
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DOI：
10.1016/s1474-4422(14)70190-5
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发表时间：
2015-01
期刊：
影响因子：
--
通讯作者：
Kaler SG
中科院分区：
文献类型：
--
作者：
Bandmann O;Weiss KH;Kaler SG
经典的铜代谢紊乱，威尔逊病（WD），首次定义于1912年。婴儿期的早发性表现和> 70岁成人的迟发性表现现在都得到了很好的认识。现代生化和遗传流行病学研究表明，WD可能比以前认识到的要常见得多。WD的早期诊断对于确保患者可以开始适当的治疗至关重要，但关于最佳药物选择的不确定性仍然存在。ATP7B突变的直接基因检测越来越多地用于确认WD的临床诊断。WD需要与临床上表现为肝豆状核变性或与WD共享生化异常的其他疾病（如血清Cerulo纤溶酶水平降低）相鉴别。铜代谢紊乱也暗示着越来越多的其他神经系统疾病，包括由ATP 7A突变引起的轴突神经病亚型，以及常见的迟发性神经退行性疾病阿尔茨海默病和帕金森病。
The classic copper metabolism disorder, Wilson disease (WD), was first defined in 1912. Both early onset presentations in infancy and late onset manifestations in adults > 70 years are now well recognized. Modern biochemical and genetic prevalence studies suggest that WD may be considerably more common than previously appreciated. Early diagnosis of WD is crucial to ensure that patients can be started on adequate treatment but uncertainty remains about the best possible choice of medication. Direct genetic testing for ATP7B mutations is increasingly available to confirm the clinical diagnosis of WD. WD needs to be differentiated from other conditions that present clinically with hepatolenticular degeneration or share biochemical abnormalities with WD, such as reduced serum cerulo plasmin levels. Disordered copper metabolism is also implied in an increasing number of other neurological conditions, including a subtype of axonal neuropathy due to ATP7A mutations, and the common late-onset neurodegenerative disorders Alzheimer’s disease and Parkinson’s disease.