Clinical profile analysis of Wilson Disease in a tertiary care hospital of Bangladesh

Abstract

This study aimed to present clinical and laboratory features of 30 children with Wilson's disease. Material and Methods:This cross-sectional study was carried out at the Department of Z.H. Sikder Women's Medical College Hospital, Dhaka on 30 children more than three years old fulfilling the diagnostic criteria of Wilson's disease.Result: Mean age of WD patients was 8.9±2.78 years, with a male female ratio of 1.3:1 Regarding presentation of WD 79.3% patients presented only with hepatic manifestation, 3% only with neurological features and 15% manifested with others. Among hepatic presentation 16(53.3%) patients presented with chronic liver disease, 3(10%) with Acute hepatitis and 3(10%) with Acute liver failure.Two patients(6%) were diagnosed on family screening & one patient(3%) was HBsAg positive. Other (15%) patients presented with WD with Acute glomerulonephritis (1), WD with betta Thalassemia (1), WD with Acute pancreatitis (1). There was significant low level of serum ceruloplasmin (35 of 40 patients) / 93.33% of cases (p<.001). After penicillamine challenge, 24-hour urinary copper excretion was found significantly higher in patients with WD (median 3626.5±1698 μg/24h, range 1262-195000) (p<.001). K-F ring was found in 15 (50%) patients, that was statistically significant . Conclusion:Wilson's disease in children is frequently missed due to its diversity of clinical presentation. So, for early detection and treatment any children with liver injury of unknown etiology should be screened for Wilson's Disease.