Wilson's disease
From IKE
Wilson's disease is an autosomal recessive disorder of copper metabolism resulting in liver disease due to mutations in a gene for a copper-transporting ATPase. The gene carrier frequency is 1 in 90.
Impaired copper transport in hepatocytes of the liver leads to reduced biliary copper excretion and copper accumulation, especially in the liver and brain. Theories for pathogenesis of cell injury are that copper poisons of hepatic enzymes; that copper binds to proteins; or that there is free radical formation.
Patients with Wilson's disease have livers that show chronic hepatitis and abundant copper. With fulminant presentations, massive hepatocyte necrosis may also be present. In the brain, injury is maximal in the basal ganglia, which may show degeneration and cavitation. Copper deposition in Descemet's membrane in the limbus of the cornea produces Kayser-Fleischer rings, visible with a slit lamp. In patients with neurologic or psychiatric symptoms, the rings are always present.
Treatment consists of removing the deposits of copper as rapidly as possible, and should be started once the diagnosis is secure, regardless of whether the patient is ill or asymptomatic. The pharmaceutical agent of choice is oral penicillamine in an initial dose of 1g per day in divided doses. Since penicillamine has an antipyridoxin effect in animals, 25mg of vitamin B6 is also given.
