Wilson Disease

Wilson disease is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene encoding a copper-transporting ATPase in hepatocytes. The defective transporter cannot incorporate copper into ceruloplasmin (the major copper-carrying protein in blood) or excrete copper into bile (the primary route of copper elimination), causing progressive copper accumulation in the liver, brain (particularly the basal ganglia and putamen), cornea, and kidneys. Hepatic copper accumulation causes a spectrum from asymptomatic elevation of liver enzymes through chronic hepatitis to fulminant hepatic failure with massive hepatocyte necrosis and Coombs-negative hemolytic anemia (from sudden copper release destroying red blood cell membranes). Neuropsychiatric manifestations include tremor, dystonia, dysarthria, drooling, personality changes, depression, and psychosis. Kayser-Fleischer rings (golden-brown copper deposits in Descemet's membrane of the cornea, visible on slit-lamp examination) are present in 95% of patients with neurological involvement. The nurse monitors liver function tests, serum ceruloplasmin and 24-hour urine copper levels, administers copper chelation therapy (D-penicillamine or trientine) as prescribed, monitors for chelation side effects (penicillamine: nephrotoxicity, bone marrow suppression, lupus-like syndrome), enforces dietary copper restriction (avoid shellfish, liver, chocolate, nuts,...