35例肝豆状核变性分析

Wilson Disease:Analysis of 35 Patients

目的分析我院肝豆状核变性的临床特点和诊疗情况。方法回顾并分析比较了2000年1月～2006年5月我院收治的35例肝豆状核变性患者的临床特点和诊断情况。结果(1)首发症状以肝功能受损为主者25例,以神经系统受累为主者6例;(2)肝脏受累的患者年龄为9.8±3.9岁,神经系统受累的患者年龄为10.3±2.7岁;(3)31例患者检查了K-F环,其中阳性29例,阳性率93.5%;31例患者测定了24h尿铜排泄,均有不同程度的升高(>100μg/24h),阳性率100%;(4)本病首诊时的误漏诊率较高,35例首诊误漏16例(45.7%),误诊以病毒性肝炎和肝硬化者为多。结论肝豆状核变性临床表现多样,除了主要累及肝脏和神经系统外,还可累及肾脏和骨关节等,对于非典型病例临床诊断困难。K-F环和尿铜排泄对诊断本病敏感度高,且简单易行,费用低,值得推荐。

Objective To investigate the clinical feature,diagnosis and treatment of patients with Wilson＇s disease. Methods 35 patients with Wilson＇s disease admitted to our hospital during San. 2000-May 2006 were reviewed. Their clinical feature and diagnosis condition were studled. Results （ 1 ） The first onset symptoms ：in 25 was liver dysfunction and in 6 was manifestation of central nervous system （CNS）. （2） The average age of patients with liver dysfunction was 9. 8 ±3.9 years,that with CNS manifestations was 10. 3 ±2. 7 years. （3）The positive rate of cornea Kayser-Fleischer ring was 93.5% （29/31） ;All patients had increased urinary copper excretions higher than 100 ug/24 hours. （4）The overall misdiagnosis rate was 45.7% （ 16/35 ） ,and the predominant misdiagnostic diseases were viral hepatitis and cirrhosis. Conclusion The clinical manifestations are diverse, which make the misdiagnosis rate very high. Cornea Kayser-Fleischer ring and urinary copper excretion are of high positive rate,as it can be carried out conveniently in clinics. We recommend to use this diagnostic measure for Wilson’s disease.