Wilson's disease (hepatolenticular degeneration) is a relatively rare cause of illness in the pediatric age group. But, as a chronic life-threatening disease that is treatable, even "curable," its investigation should be thoroughly pursued by the pediatrician. The recognition of Wilson's disease provides the opportunity to prevent this illness in presymptomatic family members. Therefore, Wilson's disease should be included in the differential diagnosis of all forms of liver disease in pediatrics and appropriately excluded.
The clinical findings that are compatible with a diagnosis of Wilson's disease are protean, and confirming or denying this diagnosis is often difficult. In order to appreciate these problems, it is necessary first to understand the normal physiology of copper in the body and the derangements in this homeostasis that characterize Wilson's disease (Fig 1).
COPPER HOMEOSTASIS
Normal
Copper is absorbed from the diet in excess of the body's requirement for it. Many foods contain copper, but chocolate, nuts, mushrooms, liver, and shellfish are particularly rich sources. Once absorbed, copper is transported free in the blood to the liver. Here, a certain fraction is incorporated in an irreversible fashion into ceruloplasmin. This copper-containing protein separates in the α2-globulins, can be an acute-phase reactant, increasing in concentration in response to stress. Alternatively, in the presence of hepatic failure with decrerased protein synthesis, its concentration in blood decreases. Ceruloplasmin is an oxidative enzyme used in a variety of pathways, including the oxidation of ferrous to ferric ions.
