Xie Juan-Juan, Wu Zhi-Ying
Department of Neurology and Research Center of Neurology in the Second Affiliated Hospital, and the Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine, Hangzhou, 310009, China.
Neurosci Bull. 2017 Jun;33(3):323-330. doi: 10.1007/s12264-017-0107-4. Epub 2017 Mar 6.
Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism. Its incidence is higher in China than in western countries. ATP7B is the causative gene and encodes a P-type ATPase, which participates in the synthesis of holoceruloplasmin and copper excretion. Disease-causing variants of ATP7B disrupt the normal structure or function of the enzyme and cause copper deposition in multiple organs, leading to diverse clinical manifestations. Given the variety of presentations, misdiagnosis is not rare. Genetic diagnosis plays an important role and has gradually become a routine test in China. The first Chinese spectrum of disease-causing mutations of ATP7B has been established. As a remediable hereditary disorder, most WD patients have a good prognosis with an early diagnosis and chelation treatment. However, clinical trials are relatively few in China, and most treatments are based on the experience of experts and evidences from other countries. It is necessary to study and develop appropriate regimens specific for Chinese WD patients.
威尔逊病（WD）是一种常染色体隐性铜代谢紊乱疾病。其在中国的发病率高于西方国家。ATP7B是致病基因，编码一种P型ATP酶，该酶参与全铜蓝蛋白的合成及铜的排泄。ATP7B的致病变异破坏了该酶的正常结构或功能，导致铜在多个器官沉积，从而引发多种临床表现。鉴于临床表现多样，误诊并不罕见。基因诊断发挥着重要作用，在中国已逐渐成为一项常规检测。首个中国ATP7B致病突变谱已经建立。作为一种可治疗的遗传性疾病，多数WD患者若能早期诊断并进行螯合治疗，预后良好。然而，中国的临床试验相对较少，大多数治疗是基于专家经验及其他国家的证据。有必要研究并制定适合中国WD患者的恰当治疗方案。
