Parkash Om, Ayub Adil, Jafri Wasim, Alishah Syed Hasnain, Hamid Saeed
Department of Medicine, The Aga Khan University, Karachi.
J Coll Physicians Surg Pak. 2013 Jul;23(7):525-6.
Wilson's disease (WD) is a rare autosomal recessive disorder of copper metabolism. Data regarding WD is not available from Pakistan. A cross-sectional study was conducted at The Aga Khan University Hospital, Karachi, and all patients admitted with primary and secondary diagnosis of Wilson's disease were added. A total of 47 patients were seen; 68% (n = 32) were male. The mean age was 26.6 ± 9.97 years. Most of the patients presented with hepatic, (n = 22, 46.8%), neurological, (n = 17, 36.2%) and psychiatric (n = 8, 17%) symptoms. Mean ceruloplasmin level was 0.17 ± 0.13 g/dl; it was < 0.25 g/dl in 39 (86.6%) patients. Serum copper (Cu) was reduced in 32 (68.1%) patients and 24-hr-urinary Cu was raised in 22 (47.6%) patients. Slit lamp examination for Kayser-Fleischer (KF) rings was done on 15 (31.9%) patients and 9 (60%) of them had KF rings. Mean serum aspartate transaminase (AST) / alanine transaminases (ALT) ratio was 1.92 and median alkaline phosphatase / total bilirubin ratio was 79.30 (IQR 35.05; 166.50).
威尔逊病（WD）是一种罕见的常染色体隐性铜代谢障碍疾病。巴基斯坦尚无关于威尔逊病的数据。在卡拉奇的阿迦汗大学医院进行了一项横断面研究，纳入了所有原发性和继发性诊断为威尔逊病的住院患者。共诊治了47例患者；其中68%（n = 32）为男性。平均年龄为26.6 ± 9.97岁。大多数患者表现为肝脏症状（n = 22，46.8%）、神经症状（n = 17，36.2%）和精神症状（n = 8，17%）。平均铜蓝蛋白水平为0.17 ± 0.13 g/dl；39例（86.6%）患者的铜蓝蛋白水平< 0.25 g/dl。32例（68.1%）患者血清铜（Cu）降低，22例（47.6%）患者24小时尿铜升高。对15例（31.9%）患者进行了裂隙灯检查以查看凯-弗环（KF环），其中9例（60%）有KF环。平均血清天冬氨酸转氨酶（AST）/丙氨酸转氨酶（ALT）比值为1.92，碱性磷酸酶/总胆红素比值中位数为79.30（四分位间距35.05；166.50）。
