Wilson's Disease Flashcards
1
Q
What is Wilson’s disease?
A
Genetic disorder with excessive copper deposition in the tissues
2
Q
What is the inheritance pattern of Wilson’s disease?
A
Autosomal recessive
3
Q
What are the features Wilson’s disease?
A
Liver
- hepatitis
- cirrhosis
Neurological
- basal ganglia degeneration
- speech problems
- psychiatric problems
Kayser-Fleischer rings
4
Q
What investigations are done in suspected Wilson’s disease?
A
Bloods
- copper reduced
- caeruloplasmin reduced
Liver biopsy
- increased copper content
Increased urine copper excretion
5
Q
How is Wilson’s disease managed?
A
Pencillamine
- chelates copper
