Wilson's disease

- toxic accumulation of copper in the liver and CNS (basal ganglia) due to failure of biliary copper excretion
- autosomal recessive
- defective gene ATP 7B (chromosome 13)
- prevalence 3:100,000
- normal copper absorption but defetive intrahepatic formation of caeruloplasmin
- features
   - onset in childhood/adolescence
   - hepatic dysfunction (cirrhosis)
   - CNS involvement (chorea, oromandibular dystonia, tremor, seizure, cerebellar signs, psychosis)
   - Kayser-Fleischer ring (copper deposition in Descement membrane)
   - hemolysis
   - Fanconi syndrome
   - low serum uric acid
- diagnosis
   - decrease in serum caeruloplasmin
   - increase in hepatic copper content
   - increase urinary excretion of copper (further increase following administration of penicillamine)
- treatment: copper chelators (penicillamine and trientine), zinc