Wilson disease
(World J Hepatol 2015;7:2859)
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Recessive disorder of copper transport (mutation in ATP7B) → copper overload
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Epidemiology: 1 in ~30,000 w/ age of presentation generally ranging from 3 to 55 y
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Extrahepatic s/s: neuro ψ disease, parkinsonism, movement disorder (hepatolenticular disease), Kayser-Fleischer rings (⊕ in 99% w/ neuro ψ but in <50% w/ hepatic disease), Coombs ⊖ hemolytic anemia, renal disease