한가족 삼 남매에서 발병된 Wilson씨병 3례

3 Cases of Wilson's Disease Developed in One Familily

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, etc......). 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 administration, and intravenous hyperalimentation. In other cases, symptoms and laboratoy findings are improved after D-penicillamine and pyridoxine administration. We report 3 patients with Wilson's disease in one family with related literatures.