Li Huamei, Tao Ran, Liu Lifang, Shang Shiqiang
Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China.
Ann Transl Med. 2019 Apr;7(Suppl 2):S59. doi: 10.21037/atm.2019.03.54.
Wilson's disease (WD), also named hepatolenticular degeneration, is an autosomal-recessive disorder in which abnormal copper metabolism leads to copper excretion disorder and deposition in target organs. WD has a high mortality rate and disability rate, however, it is one of the treatable hereditary diseases. Irreversible tissue injury can be prevented if WD was diagnosed and treated before the development of clinical symptoms. Thus it is necessary to screen WD in the family members of the proband. First-degree relatives of a proband with WD should be screened. First-degree relatives should include the previous generation, siblings and the next generation. If available, genetic testing can be used as the primary screening method. Although the relatives of a proband are more likely to be patients with WD, the diagnosis should be based on sufficient evidence to avoid unnecessary lifelong treatment.
威尔逊病（WD），也称为肝豆状核变性，是一种常染色体隐性疾病，其中异常的铜代谢会导致铜排泄紊乱并在靶器官中沉积。WD的死亡率和致残率很高，然而，它是可治疗的遗传性疾病之一。如果在临床症状出现之前诊断并治疗WD，就可以预防不可逆的组织损伤。因此，有必要对先证者的家庭成员进行WD筛查。WD先证者的一级亲属应接受筛查。一级亲属应包括上一代、兄弟姐妹和下一代。如果可行，基因检测可作为主要筛查方法。虽然先证者的亲属更有可能是WD患者，但诊断应基于充分的证据，以避免不必要的终身治疗。
