海南医学
海南醫學
해남의학
HAINAN MEDICAL JOURNAL
2015年
15期
2271-2274
,共4页
肝豆状核变性%临床诊断%治疗
肝豆狀覈變性%臨床診斷%治療
간두상핵변성%림상진단%치료
Wilson disease (WD)%Clinical diagnosis%Treatment
肝豆状核变性(WD)是一种常染色体隐性遗传病,病死率高。因ATP7B基因突变导致ATP7B功能丧失或减弱而致病,临床表现为肝硬化、椎体外系症状、角膜色素沉着环等,该病必须早期诊断、早期治疗,晚期患者目前最有效的方法是肝移植。
肝豆狀覈變性(WD)是一種常染色體隱性遺傳病,病死率高。因ATP7B基因突變導緻ATP7B功能喪失或減弱而緻病,臨床錶現為肝硬化、椎體外繫癥狀、角膜色素沉著環等,該病必鬚早期診斷、早期治療,晚期患者目前最有效的方法是肝移植。
간두상핵변성(WD)시일충상염색체은성유전병,병사솔고。인ATP7B기인돌변도치ATP7B공능상실혹감약이치병,림상표현위간경화、추체외계증상、각막색소침착배등,해병필수조기진단、조기치료,만기환자목전최유효적방법시간이식。
Wilson's disease (WD), which has high mortality, is an autosomal recessive disease. The aetiologi-cal agent is the loss of function or receding of ATP7B gene mutation. Clinical manifestations of WD include liver cir-rhosis, vertebral body symptoms, and corneal pigmentation. Early diagnosis and early treatment are important for pa-tients with WD. The most effective method for patients with advanced disease is liver transplantation.