目的 探讨Wilson病(WD)眼部表现的情况.方法 采用非随机回顾性系列病例研究.对2002年1月至2006年4月在中山大学附属第一医院住院的52例Wilson病患者的家族史、临床表现及实验室检查等临床资料进行分析,按照临床表现将其分为无症状筛查组、仅有肝脏病变组、仅有神经病变组及混合组(兼有肝脏和神经病变)4组.结果 52例患者中男性32例,女性20例,比例为1.6∶1.0.年龄4～53岁,平均(20±1)岁,其中41例(78.8%)在10～30岁之间.14例(26.9%)有家族史,3例(5.8%)有可疑家族史.无症状筛查组2例(2/52,3.8%),其中1例(1/2)K-F环阳性;12例(12/52,23.1%)仅有肝脏病变,其中7例(7/52,13.5%)K-F环阳性;11例(11/52,21.2%)仅有神经病变患者全部K-F环阳性(11/11,100%);27例(27/52,51.9%)兼有肝脏和神经病变,其中26例(26/27,96.3%)K-F环阳性.共45例(45/52,86.5%)K-F环阳性,7例(13.5%)无K-F环.1例(1.9%)有"向日葵"样白内障,1例(1.9%)有眼球震颤.51例(98.1%)铜蓝蛋白降低,51例(98.1%)24 h尿铜排泄量大于正常.结论 K-F环是常见的WD特征性的临床表现,多见于有神经病变的患者.%Objeetive To investigate the ophthalmic manifestations of Wilson's disease(WD).Methods In this nonrandomized retrospective ease series,fifty-two WD patients were investigated retrospectively,based on the family history,clinical signs and the laboratory test.Patients were divided into 4 groups:asymptomatic group,only with hepatic disorders,only with neurological disorders and with both hepatic and neurological disorders group.Results Thirty two males and twenty females were studied.The majority(78.8%)of patients belonged to younger age groups(10-30 years). The family history showed members with WD in 14 patients(26.9%),probable WD in 3 patients(5.8%).Out of 52 patients,2 asymptomatie patients(3.8%)were detected by family screening,12 patients(23.1%)only had hepatic disease,11 patients(21.2%)only had neurological disorders and 27 patients(51.9%)had both hepatic and neurological disorders.Among 45 patients(86.5%)with Kayser-Fleischer(K-F)ring,1 patient was asymptomatic,7 patients had hepatic disease,11 had neurological disorders and 26 had both hepatic and neurological disorders.One patient(1.9%)was presented with sunflower cataract. Fifty one patients (98.1%)had low serum ceruloplasmin levels and high urinary copper excretion.Conclusions K-F ring is a common and characteristic manifestation of WD.This is often found in patients with neurological disorders.
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