Wilson's disease

external

• Synonyms

  • Wilson disease
  • Hepatolenticular degeneration

• Causes

  • ATP7B gene mutation

• Effects

  • Chronic liver disease
  • Tender hepatomegaly
  • Parkinsonism
  • Chorea
  • Behavioural change
  • Kayser-Fleischer ring
  • Blue lunnula
  • Blue nail
  • Low coeruloplasmin
  • High urine copper
  • High liver copper
  • Osteomalacia
  • Low plasma urate
  • Mallory body
  • Extravascular haemolysis
  • Proximal renal tubule acidosis
  • Osteoarthritis
  • Chondrocalcinosis
  • Cutis laxa
  • Congenital cataract
  • Hereditary Fanconi syndrome
  • Panda sign

• Parents

  • Liver disease
  • Autosomal recessive disorder
  • Disease due to genetic mutation

• Treatments

  • Penicillamine
  • Zinc
  • Liver transplant

• Description

  • "No increased risk of hepatocellular carcinoma Chromosome 13q 10% develop Coombs' negative haemolysis Pathology hepatolenticular degeneration Brain area affected = lenticular nuclei copper accumulates in liver & spills over to CNS Clinical: -neurological/ psychiatric symptoms -liver disease. "