Wilson's disease Flashcards
1
Q
What is the inheritance of wilson’s disease?
A
Autosomal recessive
2
Q
When is the onset of symptoms in Wilson’s disease?
A
10-25 years
3
Q
What is Wilson’s disease?
A
A genetic disorder that causes excessive copper deposition in the tissues
4
Q
What is the presentation of wilson’s disease?
A
Hepatitis
Cirrhosis
Basal ganglia degeneration
Speech, behavioural and psychiatric problems
Kayser-Fleischer rings
5
Q
What investigations are used in the diagnosis of Wilson’s disease?
A
Slit lamp examination for Kayser-Fleischer rings
Reduced serum caeruloplasmin
Reduced total serum copper
Genetic analysis of ATP7B gene
6
Q
What is the management of wilson’s disease?
A
Copper chelating agents
- Penicillamine - first line
- Trientine hydrochloride
