Wilson’s Disease
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Inheritance

  • Autosomal recessive

Pathology

Copper incorporation into caeruloplasmin in hepatocytes and and its excretion into bile is impaired so copper is deposited into organs (firstly liver, then basal ganglia)

Clinical

  • Presents in children with liver failure/jaundice
  • Presents in young adults with CNS signs e.g. ataxia, tremor, dysarthria
  • Eyes: kayser fleischer rings (gold ring around iris)

Investigations

  • 24 hr urinary copper excretion high
  • Serum copper and caeruloplasmin levels low
  • Liver Biopsy
  • MRI: basal ganglia degeneration

Management

  • Life long Penicillamine (copper chelation)

 

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Dr Tom Leach

Dr Tom Leach MBChB DCH EMCert(ACEM) FRACGP currently works as a GP and an Emergency Department CMO in Australia. He is also a Clinical Associate Lecturer at the Australian National University. After graduating from his medical degree at the University of Manchester in 2011, Tom completed his Foundation Training at Bolton Royal Hospital, before moving to Australia in 2013. He started almostadoctor whilst a third year medical student in 2009. Read full bio

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