Miroslav Žigrai
Wilson’s disease belongs to a small group of treatable inborn metabolic disorders. It is caused by the function disorder of the enzyme ATPase 7B in a hepatocyte in a bile pole, which leads to copper accumulation in the liver and later in other organs, primarily in the brain. Clinically we can distinguish a hepatic and neurologic form. Early diagnosis is based on a combination of biochemical evidence of the disorder of copper metabolism (low serum ceruloplasmin concentration, high copper excretion in urine), evidence of increased copper concentration in the liver, finding of the Kayser-Fleischer ring by the slit lamp, and genetic evidence of ATPase 7B gene mutation. The aim of conservative medicamentous therapy is to reach negative copper balance by its excretion in urine using chelating substances (penicillamine and trientin) or to block its absorption by zinc. Liver transplantation is appropriate for cases of Wilson’s disease with advanced liver cirrhosis not reacting to chelation treatment and with fulminant liver failure.