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Chapter: Paediatrics: Gastroenterology and nutrition

Paediatrics: Wilson’s disease

A rare autosomal recessive disorder leading to toxic accumulation of cop-per in the liver and, subsequently, other tissues especially the brain and eye.

Wilson’s disease

 

A rare autosomal recessive disorder leading to toxic accumulation of cop-per in the liver and, subsequently, other tissues especially the brain and eye.

 

Presentation

 

   Kayser–Fleischer rings (copper deposition in Descemet’s membrane of the eye) often present (45% with hepatic presentation and 90% with neurological) and are pathognomonic. May require slit-lamp examination to visualize.

 

   Hepatic problems usually present in childhood (hepatitis, cirrhosis, fulminant hepatic failure).

 

   Adolescents/young adults usually present with neurological disease.

 

Investigations

 

   Serum copper and caeruloplasmin d.

   24hr urinary copper excretion >100microgram (normal <40microgram).

   Molecular genetic testing—Wilson’s disease gene (ATP7B) mutation.

 

Treatment

   Lifelong chelation therapy with penicillamine (reverses pre-cirrhotic liver disease, but not neurological damage).

   Liver transplantation if end-stage hepatic failure.

 

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