Wilson's disease

Wilson's disease is an Autosomal recessive condition due to a mutation in the Wilson disease protein (ATP7B) gene. For a person to be affected they must inherit an affected copy of the gene from each parent. Difficult to diagnose and frequently involves a combination of urine tests, blood tests, and a liver biopsy. Genetic testing may be used to screen family members of those affected. Wilson's disease is typically treated with dietary changes and medication. Dietary changes involve eating a low copper diet and not using copper cookware. Medications used include chelating agents such as trientine and d-penicillamine and zinc supplements. Complications of Wilson's disease can include liver failure, liver cancer, and kidney problems. A liver transplant may be helpful in those in whom other treatments are not effective or if liver failure occurs.