Wilsons Disease - A Rare Hereditary Cause of Chronic Liver Disease in Children, The First Ethiopian Case Report

Wilson's disease is an autosomal-recessive disorder caused by mutation in the ATP7B gene, with resultant impairment of biliary excretion of copper. It is universally fatal without effective therapy. Individuals without Kayser-Fleischers ring who have subnormal ceruloplasmin and abnormal liver tests can undergo liver biopsy to confirm the diagnosis. If available, molecular testing for ATP7B mutations or haplotype studies should be obtained and may be used as primary screening.