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Wilson's disease (diagnosis (reduced scaeruloplasmin, reduced sCu,…
Wilson's disease
diagnosis
reduced scaeruloplasmin
reduced sCu
increased 24h urinary Cu excretion
clinical
signs
kayser-fleischer rings
RTA
blue nails
haemolysis
symptoms
dementia
tremor
dyskinesia
chorea
aetiology
autsomal recessive
definition
genetic condition characterised by toxic accumulation of copper in the liver and brain
management
medical
penicillamine
trientine hydrochloride
ancillary
LFTs
incidence
pathophysiology