disorders of nutrition
Wilson Disease
Diagnosis of Wilson Disease
Slit-lamp examination of the eyes Blood and urine tests Sometimes a liver biopsy Doctors suspect Wilson disease based on symptoms (such as Overview of Hepatitis , tremors, and personality changes) that have no obvious other cause and/or on the presence of Wilson disease in relatives. The following tests help confirm the diagnosis: Slit-Lamp Examination of the eyes for Kayser-Fleischer rings Blood tests to measure levels of ceruloplasmin (a protein that transportscopperthrough the bloodstream) Measurement ofcopperexcreted in the urine If the diagnosis is still unclear, a Biopsy of the Liver None Because early treatment is most effective, anyone who has a sibling, cousin, or parent with Wilson disease is tested for the disease. If children have a relative with the disease, tests are done after about age 1 year. Tests done earlier are likely to miss the disease. 