Present status of diagnosis and treatment of hepatolenticular degeneration
10.3760/cma.j.issn.1007-3418.2019.03.001
- VernacularTitle:肝豆状核变性的诊治现状
- Author:
Liping YI
1
;
Wei ZHANG
;
Zhen WU
;
Weijia DUAN
;
Yu WANG
;
Jian HUANG
;
Xiaojuan OU
;
Hong YOU
;
Jidong JIA
Author Information
1. 首都医科大学附属北京友谊医院肝病中心 首都医科大学少见、罕见肝病临床诊疗与研究中心 国家消化系统疾病临床医学研究中心 100050
- Keywords:
Hepatolenticular degeneration;
Diagnosis;
Therapy;
Wilson's disease
- From:
Chinese Journal of Hepatology
2019;27(3):161-165
- CountryChina
- Language:Chinese
-
Abstract:
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,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.
