Wilson’s Disease

  • Autosomal recessive
  • Mutations in the ATP7B gene -> impaired copper excretion into bile + incorporation into ceruloplasmin -> copper accumulates in various organs: liver, kidney, cornea, brain
  • Present between the ages 5-35


Clinical features:

  • Liver (most initial): acute hepatitis, cirrhosis, fulminant hepatic failure
  • Eyes: Kayser-Fleischer rings (copper deposit in Descemet’s membrane)
  • CNS: extrapyramidal signs (parkinsonian sx), movement disorders and psychosis
  • Kidneys: amuniaciduria, nephrocalcinosis, RTA
  • Coombs negative hemolytic anemia
Wilsons 1
Kayser-Fleischer rings



  • Slit-lamp exam for Kayser-Fleischer rings
  • Hepatic ds: ↑ALT\AST, impaired synthesis of coagulation factors and albumin, biopsy (most accurate)
  • ↓ serum ceruplasmin levels
  • Most accurate: give pencillamine -> abnormally increased amount of copper excretion into urine



  • Chelating agents: D-penicillamine or trientine
  • Zinc: prevents uptake of dietary copper


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