Wilson's disease with hepatic presentation in childhood

OBJECTIVE: To evaluate clinical, laboratory findings, treatment and long-term follow-up of children with Wilson's disease with hepatic presentation. DESIGN: Retrospective study with a median follow-up period of 9 years. SETTING: University medical center. SUBJECTS: Thirty-four children with hepatic involvement, ranging in age from three to fifteen years, were diagnosed as Wilson's disease over an eighteen year period. METHODS: The diagnosis was based on the presence of family history and Kayser-Fleischer rings, low serum ceruloplasmin levels and increased urinary and hepatic copper concentrations. RESULTS: Four patients had also neurological manifestations. Eight patients were diagnosed as fulminating hepatic failure resulting in death in a few days. The most common symptoms were abdominal distension and abdominal pain. Hepatomegaly was the predominant physical finding and serum transaminases were elevated in most of the patients. Twenty patients had cirrhosis and six had chronic hepatitis histopathologically. All patients with fulminating hepatic failure had hyperbilirubinemia with normal alkaline phosphatase and higher aspartate aminotransferase than alanine aminotransferase. Patients were treated with D-penicillamine and zinc sulphate. Three patients underwent liver transplantation. Four more patients besides patients with fulminating hepatic failure died due to end stage liver disease. Twenty-two patients were followed for median 9 years. Four patients with poor compliance progressed to decompensated cirrhosis and the others were stable. CONCLUSIONS: Liver disease with unknown origin with positive family history and parental consanguinity should imply Wilson's disease strongly.