Clinical profile of wilson disease in children in a tertiary care centre in south india

Background: Wilson disease (WD) is the most common metabolic liver disease in Indian children with late presentation mandating early identication and treatment to prevent disease related morbidity and mortality. Aim: To study the clinical prole of Wilson disease in a tertiary referral care centre for children in South India. Material & Methods: Retrospective descriptive analysis of medical records of children with Wilson disease over ve years from January 2014 to January 2018 admitted in Paediatric Gastroenterology department, Institute of child health & Hospital was done. Results: There were 75 children, 36 male 39 Female (1:1.08) with age ranging from 4 to 12 years. Clinical features include asymptomatic stage 7(9.3%). hepatic phenotype in 53 (70.6%) and neurophenotype in 15 (20%) children. Growth retardation was observed in 64 (85%), Kayser Fleischer ring in 30 (40%), Jaundice in 45 (60%), chronic liver disease in 40 (65.3%) out of which 21 (52.5%) children presented with decompensated liver disease and 14 children died during the study period with 18.7% mortality. Laboratory tests showed mean Hb 9.8 gm/dl SGOT 254 IU/L, SGPT 154 IU/L, albumin 2.2 gm/dl, low serum ceruloplasmin < 20mg/dl in 49 (65.3%), 24 hours urinary copper after D. Penicillamine challenge 680.4 µgm /day. Majority tolerated oral chelation therapy with D. Penicillamine except in 3. Conclusion:WD is the most common metabolic liver disease in children with chronic liver disease with 18.7%h mortality rate