Wilson’s disease is an autosomal recessive disorder with a genetic mutation recently localized on chromosome 13. The primary defect is impaired biliary excretion of copper, leading to its accumulation in the liver, brain, and other tissue(kidney,
eye
ect......). We have experienced three cases of Wilson’s disease developed in one family. In all patients, Kayser-Fleisher ring and mild elevated SGOT/SGPT with negative HBsAg are observed, but neurologic symptoms are not associated. Other
familial
members are negative in laboratory test for Wilson’s disease. In case 2 acute fulminant hepatitis are developed, so he died despite of aggressive management such as D-penicillamine, albumine and pyridoxine and administration and intravenous
hyperalimentation, In other cases, symptoms and laboratory findings are improved after D-Penicillamine and pyridoxine administration. We report 3 patients with Wilson’s disease in one family with related literatures.
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