Intractable Rare Dis Res. 2017;6(4):249-255. (DOI: 10.5582/irdr.2017.01057)

Epidemiology, diagnosis, and treatment of Wilson's disease.

Liu J, Luan J, Zhou XY, Cui YZ, Han JX


Wilson's disease (WD) is an autosomal recessive disease caused by a mutation of the ATP7B gene, resulting in abnormal copper metabolism. The major clinical features of WD include liver disease, neurological disorders, K-F rings, and osteoporosis. The prevalence of WD in China is higher than that in Western countries. Early diagnosis and lifelong treatment will lead to better outcomes. Drugs such as sodium dimercaptosuccinate (Na-DMPS), Zn, and Gandou Decoction can be used to treat WD. Some studies have shown that the combination of traditional Chinese medicine and Western medicine is the best approach to treating WD. In order to identify better treatments, this article describes the specific clinical symptoms of Wilson's disease, its diagnosis, and treatment options.

KEYWORDS: Wilson's disease, Kayser-Fleischer rings, D-PCA

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