摘要肝豆状核变性是常染色体隐性遗传的铜代谢障碍性疾病,由于13号染色体上ATP7B基因突变,导致其编码产物ATP7B的功能缺陷,引起铜在肝脏、脑、角膜、肾脏等病理性沉积,临床表现多样,最常见为肝病、神经系统疾病、角膜色素环.早期诊断及正确治疗可以改善肝豆状核变性预后,反之则可进展至终末期肝病或严重运动功能障碍,严重影响患者生存质量.

abstractsHepatolenticular degeneration (HLD) is an autosomal recessive inherited disorder of copper metabolism.The mutations in the ATP7B gene on chromosome 13 leads to the functional defect of ATP7B,which produces pathological deposits of copper in liver,brain,comea and kidney,with diverse clinical manifestations in various forms of liver disease,nervous system disease and corneal disease (Kayser-Fleischer rings).Early diagnosis and proper treatment can improve the prognosis of hepatolenticular degeneration.Conversely,it may progress to end-stage liver disease or severe motor dysfunction,which seriously affects patient quality of life.