Wilson's disease: Experience at a tertiary care hospital

Wilson's disease (WD) is a rare autosomal recessive disorder of copper metabolism. Data regarding WD is not availablefrom Pakistan. A cross-sectional study was conducted at The Aga Khan University Hospital, Karachi, and all patientsadmitted 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; itwas < 0.25 g/dl in 39 (86.6%) patients. Serum copper (Cu) was reduced in 32 (68.1%) patients and 24-hr-urinary Cu wasraised in 22 (47.6%) patients. Slit lamp examination for Kayser-Fleischer (KF) rings was done on 15 (31.9%) patients and9 (60%) of them had KF rings. Mean serum aspartate transaminase (AST) / alanine transaminases (ALT) ratio was 1.92and median alkaline phosphatase / total bilirubin ratio was 79.30 (IQR 35.05; 166.50).