Liu Jing, Luan Jing, Zhou Xiaoyan, Cui Yazhou, Han Jinxiang
School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Science, Ji'nan, China.
Key Laboratory for Rare Disease Research of Shandong Province, Key Laboratory for Biotech Drugs of the Ministry of Health, Shandong Medical Biotechnological Center, Shandong Academy of Medical Sciences, Ji'nan, China.
Intractable Rare Dis Res. 2017 Nov;6(4):249-255. doi: 10.5582/irdr.2017.01057.
Wilson's disease (WD) is an autosomal recessive disease caused by a mutation of the 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.
威尔逊病（WD）是一种由基因突变引起的常染色体隐性疾病，导致铜代谢异常。WD的主要临床特征包括肝脏疾病、神经紊乱、K-F环和骨质疏松症。WD在中国的患病率高于西方国家。早期诊断和终身治疗将带来更好的结果。诸如二巯基丁二酸钠（Na-DMPS）、锌和肝豆汤等药物可用于治疗WD。一些研究表明，中西医结合是治疗WD的最佳方法。为了确定更好的治疗方法，本文描述了威尔逊病的具体临床症状、诊断方法和治疗选择。
