Liver disease of less common aetiology - Wilson disease
Description
- Autosomal recessive disorder of copper transport: ATP7B mutation on chromosome 13
- ATP7B does two jobs in the hepatocyte, and both fail:
1. Loads copper onto apocaeruloplasmin -> dec serum caeruloplasmin
2. Excretes copper into bile -> copper accumulates
- Biliary excretion is the only route of copper elimination - so accumulation is inevitable and progressive
- Copper saturates the liver -> spills into the circulation as free (non-caeruloplasmin-bound) copper -> deposits in brain (basal ganglia), cornea, kidney, joints, heart
- Free ionic copper impairs mitochondrial ATP production and generates free radicals -> hepatocyte and neuronal injury
- *Treatable and, untreated, fatal - the reason to test every young person with unexplained liver or movement disorder*
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