肝豆状核变性56例临床分析

目的回顾分析肝豆状核变性患者临床资料,总结其临床特点。方法回顾分析1994-01～2011-01本院收治的56例肝豆状核变性患者临床资料。结果该病从发病到确诊时间中位数2.6 a;临床表现以肝损害为主26例,以神经系统损害为主16例,二者兼有14例;角膜K-F环阳性42例,血铜蓝蛋白降低52例,头颅CT或MRI阳性31例。结论该病从发病到确诊时间长。临床表现主要以肝损害为主或以神经系统损害为主或二者兼有,血铜蓝蛋白测定、K-F环检查、头颅CT和MRI检查对诊断具有重要意义。

Clinical analysis of 56 patients with hepatolenticular degeneration

Objective To investigate the clinical features of 56 patients with hepatolenticular degeneration(HLD) and improve the acknowledgement for the disease.Methods Fifty-six patients with HLD from 1994-01～2011-01 admitted to our hospital were reviewed.Results The average time before diagnosis of HLD was 2.6 years.Some 26 cases with liver dysfunction,16 cases with manifestations of center nerves system,14 cases with both liver dysfunction and manifestations of center nerves system,42 cases with comea Kayser-Fleischer ring,52 cases with low level of ceruloplasmin,31 cases with positive brain CT/MRI results.Conclusion It is difficult in the diagnosis of HLD.The clinical feature of HLD can be liver dysfunction or manifestations of center nerves system.It is useful for the diagnosis of HLD to test ceruloplasmin,Kayser-Fleischer ring and brain CT/MRI.