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Wilson's disease is an autosomal recessive disorder characterized by accumulation of copper in multiple organs, including the liver. The specific molecular defect resides within a copper-transporting ATPase encoded by a gene on chromosome 13. Affected patients exhibit impaired biliary excretion of copper; this leads to copper accumulation in the liver, and in later stages, to its release into the circulation, permitting deposition in the brain, cornea, and kidneys. Patients with Wilson's disease begin to accumulate hepatic copper in infancy. Despite this, symptoms of disease rarely develop before adolescence Wilson's disease, Wilsons disease, Wilson disease.
Symptoms of liver disease are the presenting complaint in roughly half of affected individuals. The most common syndrome is that of postnecrotic cirrhosis with hepatic dysfunction and portal hypertension. A small proportion (10 to 30%) of patients have chronic active hepatitis. Rarely the disease manifests as fulminant hepatic failure; in patients with massive liver necrosis, coincident hemolysis may provide an
No single biochemical test can establish the diagnosis. A useful screening test is serum ceruloplasmin, which is < 20 mg per deciliter in 85% of patients. If Kayser-Fleischer rings are found in a patient with a low ceruloplasmin level, the diagnosis is
However, because 15% of patients with symptomatic Wilson's disease have normal ceruloplasmin levels, and because asymptomatic patients (e.g., children) and those with hepatic presentations such as chronic active hepatitis or fulminant hepatic failure may lack Kayser-Fleischer rings, the diagnosis may be difficult to establish noninvasively. In this event a liver biopsy should be obtained to quantify total hepatic copper. Patients with > 250 µg copper per gram of dry liver tissue who have either Kayser-Fleischer rings or a low level of serum ceruloplasmin are considered to have Wilson's disease. Occasionally children with chronic liver disease who lack Kayser-Fleischer rings and have a normal ceruloplasmin level present a problem in diagnosis. In this case, measurement of urinary copper excretion in response to oral penicillamine challenge
Treatment
Copper chelation improves survival but does not
Once initiated, therapy must be continued for life; discontinuation can result in rapid deterioration of
In patients with fulminant hepatic failure or decompensated cirrhosis, liver transplantation provides effective therapy by correcting the