Metabolic effects of hepatic replacement in Wilson's disease.

Abstract

WILSON’s disease is an inborn disorder of metabolism characterized by progressive accumulation of copper in tissues with subsequent degenerative changes that affect mainly the brain and the liver. Discoloration of the cornea by the metal is observable on split-lamp examination as the Kayser–Fleischer ring. Abnormal biochemical findings may include elevated albumin-bound serum copper, increased urinary excretion of copper, low level of the copper-containing serum protein ceruloplasmin, and low total serum copper. The nature of the primary metabolic defect remians obscure.1 The frequency and significance of severe hepatic involvement in Wilson’s disease has become increasingly apparent in the last years.2,3 Clinically, the hepatic disorder is indistinguishable from other forms of chronic hepatitis. Histologically, there is “postnecrotic” cirrhosis with alcoholic hyaline bodies of Mallory. Two teen-age boys with liver cirrhosis due to Wilson’s disease have been treated with orthotopic hepatic transplantation at our institution. Studies of the copper metabolism in these patients has provided important information concerning the role of the liver in Wilson’s disease.