Wilson's Disease Flashcards
1
Q
What inheritance is Wilson’s disease?
A
Autosomal recessive
2
Q
What genetic defect is the cause of Wilson’s Disease?
A
ATP7B gene located on Chromosome 13
3
Q
Between what ages is the onset of Wilson’s disease?
A
10-25 years old.
4
Q
What is the most common presentation in children?
A
Liver disease
5
Q
What is the most common first presentation in young adults?
A
Neurological disease
6
Q
What are some features of excess copper deposition in body tissues?
A
- Liver: hepatitis, cirrhosis
- Neurological: basal ganglia degeneration, speech and behavioural problems are often the first manifestations. Also: asterixis, chorea, dementia
- Kayser-Fleischer rings
- Renal tubular acidosis (esp. Fanconi syndrome)
- Haemolysis
- Blue nails
7
Q
How do you diagnose Wilson’s disease?
A
- Reduced serum caeruloplasmin
- Increased 24 hour urinary copper excretion.
8
Q
How is Wilson’s disease managed?
A
- First line - Penicillamine (chelates copper)
- Trientine hydrochloride is an alternative chelating agent which may become first-line treatment in the future
- Tetrathiomolybdate is a newer agent that is currently under investigation
