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。
Hepatolenticular 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,cornea 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.
作者
伊丽萍
张伟
武祯
段维佳
王宇
黄坚
欧晓娟
尤红
贾继东
Yi Liping;Zhang Wei;Wu Zhen;Duan Weijia;Wang Yu;Huang Jian;Ou Xiaojuan;You Hong;Jia Jidong(Liver Reseach Center,Beijing Friendship Hospital,Capital Medical University,Clinical Research Center for Rare Liver Diseases,National Clinical Research Center for Digestive Diseases,Beijing 100050,China)
出处
《中华肝脏病杂志》
CAS
CSCD
北大核心
2019年第3期161-165,共5页
Chinese Journal of Hepatology
关键词
肝豆状核变性
诊断
治疗
WILSON病
Hepatolenticular degeneration
Diagnosis
Therapy
Wilson's disease
