[Pathogenesis and treatment of Wilson's disease].

Authors review the pathogenesis, symptoms and diagnosis of Wilson's disease. Wilson's disease or hepatolenticular degeneration is an autosomal recessive disorder. It is caused by defective hepatic excretion of copper. The disease is fatal without treatment. The prevention of severe permanent damage depends upon early recognition and diagnosis followed by appropriate lifelong anticopper treatment. The purpose of the therapy of Wilson's disease is to eliminate the copper by chelators (D-penicillamine, triethylene tetramine, ammonium tetrathiomolibdate) and to inhibit the absorption and accumulation of copper by zinc salts (zinc sulphate, zinc acetate, zinc gluconate).