Wilson's disease Flashcards
1
Q
Wilson’s disease definition
A
autosomal recessive disorder of excess copper deposition
2
Q
Wilson’s disease risk factors
A
- ATP7B gene mutation
- family history
3
Q
Wilson’s disease pathophysiology
A
- ATP7B encodes an ATPase for trans- membrane copper transport in hepatocytes
- copper cannot be transported in bile or excreted in faeces
- copper accumulation exceeds liver storage capacity
- accumulates in blood and tissue
4
Q
Wilson’s disease signs and symptoms
A
- onset at 10-25 - liver disease in children, psychiatric in adults
- liver hepatitis and cirrhosis
- basal ganglia degeneration
- speech, behaviour and psychiatric problems
- asterixis, chorea, dementia, Parkinsonism
- Kaiser-Fleischer rings
- renal tubular acidosis
- haemolysis
- blue nails
5
Q
Wilson’s disease investigations
A
- slit lamp for eyes
- decreased serum caeruloplasmin
- decreased serum copper
- increased urinary copper excretion
- genetic analysis to confirm diagnosis
6
Q
Wilson’s disease management
A
- penicillamine to chelate copper
-2nd line - trientine hydrochloride - new - tetrathiomolybdate
