128例肝豆状核变性分析

Analysis of 128Wilson's Disease

目的分析本院肝豆状核变性病例的临床特点和诊治情况。方法回顾并分析比较1983年1月～2000年4月本院收治的128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(64例)和神经系统受累(52例)为主,二者差异无显著意义(P>0.05);2肝脏受累的患者较为年轻(13±3.5)岁神经系统受累患者的平均年龄为23±8.3岁(P<0.05);3角膜凯-弗环阳性者124例,阳性率为96.8%。114例患者接受了酮氧化酶吸光度检查,其吸光度的平均值为0.051±0.0240.01～0.16,阳性率为93%(106/114);4该病首诊时的误诊率较高,128例中55例首诊误诊42.9%。误诊为甲型肝炎或慢性肝炎者最多,占误诊病例的49.2%;5以肝脏受累为主的患者(64例)均伴有明显的脾功能亢进:脾脏增大平均至肋下2.5cm,WBC为2.821.33～14×109/L,PLT为4212～27.2×109/L;因此,部分患者需要手术治疗。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,还可单纯累及肾脏或骨骼系统等,给临床诊断带来困难。与中枢神经系统受累患者相比,肝脏受累患者明显年轻。角膜凯-弗环和酮氧化酶吸光度是两种敏感性和特异性都很高的检查方法,简便易行,值得推荐。

Objective To investigate the clinical feature and misdiagnosis of128patie nts with Wilson' s disease and propose the points of diagnosis for this disease .Method128patients with Wilson's dis-ease from Jan.1983～Apr.2000a dmitted to our hospital were reviewed.Their clinical feature and dia-gnosis co ndition,such as the early onset symptoms,misdiagnosis and hypersplenism were s tudied.Res-ults1.The first onset symptoms:64were liver dysfunction and52 were manifestations of CNS(P>0.05).2.The average age of patients with liver dysfunction was significantly younger(13±3.5yea rs)than that of CN S manifestations (23±8.3years,P<0.05).3.The positive rate of co rnea Kayser-Fle-ischer ring was96.8%;the value of copper oxidase absorbenc y was0.051±0.024(0.01～0.16)and its positive rate was93% .4.The overall misdiagnosis rate was42.9%(55/128)and the predomin ant misdiagnostic diseases were hepatitis A and chronic hepatitis.Conclusion T he clinical manifestations are diverse,which make the misdiagnosis rate very hi gh.The age of liver dysfunction patients is sig-nificantly younger than that of the CNS manifestations patients.Cornea Kayser～Fleischer ring and cop-per oxid ase absorbency are of high positive rate,as it can be carried out conveniently in clinic s we recommends to use this diagnostic measure for Wilson's disease .