What is the role of Wilson disease in Fanconi syndrome?

Updated: Feb 09, 2018
  • Author: Sahar Fathallah-Shaykh, MD; Chief Editor: Craig B Langman, MD  more...
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Wilson disease is caused by a disturbance in the metabolism of copper. Incidence is estimated to be 1 case per 50,000 live births. The genetic defect resides on band 13q14.

Wilson disease is characterized by reductions in the hepatic rate of copper incorporation into ceruloplasmin and in the biliary excretion of copper. The result is progressive accumulation of copper in the liver, subsequent overflow into the blood, and deposition in other tissues. The impairment in biliary copper excretion may be due to a defect in a P-type copper-transporting ATPase. The most common presentation, which usually occurs in children older than 6 years, is with chronic active hepatitis or cirrhosis. Greenish brown rings, termed Kayser-Fleischer rings, at the limbus of the cornea are pathognomonic.

Neurologic symptoms, such as behavioral disturbances, dysarthria, and malcoordination of voluntary movements are often present. Other symptoms include hemolytic anemia, renal stones, renal tubular acidosis, cardiomyopathy, and hypoparathyroidism. Generalized hyperaminoaciduria rarely becomes evident during childhood. Several agents have been found to be effective in the treatment of children with Wilson disease. Prominent among the treatments is D-penicillamine. Prognosis mainly depends on the extent of damage incurred prior to the onset of therapy.

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