WILSONS-DISEASE - UPDATE OF A SYSTEMIC DISORDER WITH PROTEAN MANIFESTATIONS

In Wilson's disease, a genetic defect in a copper transporter causes d efective incorporation of copper into apo-ceruloplasmin and the failur e to excrete copper into bile. Copper accumulated in hepatocytes gener ates damage via reactive oxygen species. Release of copper from necrot ic hepatocytes leads to damage of other tissues, including the brain, urinary tract, red blood cells, heart, endocrine glands, skin, pancrea s, bones, and joints. Treatment is designed to chelate the excess copp er for urinary excretion, prevent copper absorption, and render tissue copper nontoxic. Liver transplantation, with replacement of the defec tive hepatic gene, may be necessary in some cases.