Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, 200040, China.
Transl Neurodegener. 2012 Nov 27;1(1):23. doi: 10.1186/2047-9158-1-23.
Wilson disease is an autosomal recessive disorder of copper metabolism. Diagnosis depends primarily on clinical features, biochemical parameters and the presence of the Kayser-Fleischer ring. Genetic analysis for mutations within ATP7B is a convincing diagnostic tool. The traditional treatment for WD includes chelation of excessive copper accumulation and reduction of copper intake. Medical therapy is effective but WD is not yet curable. Liver transplantation is especially helpful for patients who fail to respond to medical therapy or present with fulminant liver failure, although evaluation of its long-term effect are still in need.
肝豆状核变性是一种常染色体隐性遗传性铜代谢疾病。其诊断主要依赖于临床特征、生化参数和角膜 K-F 环的存在。ATP7B 基因突变分析是一种可靠的诊断工具。WD 的传统治疗包括螯合过多的铜积累和减少铜的摄入。药物治疗有效，但 WD 仍无法治愈。肝移植对药物治疗无效或暴发性肝功能衰竭的患者尤其有帮助，尽管仍需要评估其长期效果。
