Wilson病的眼部表现

Ophthalmic manifestations of Wilson＇s disease

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％）24h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。

Objective To investigate the ophthalmic manifestations of Wilson＇s disease （WD）. Methods In this nonrandomized retrospective case 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： asymptomatie 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 ratio of male to female was 1.6： 1. 0. The mean age was （20 ± 1 ） years, ranged from 4 to 53 years. 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 asymptomatic 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.