Wilson disease Flashcards
1
Q
What is Wilson disease?
A
Copper storage disorder - excess copper deposited in tissues
2
Q
Wilson disease is caused by a mutation in the (…?) gene
This mutation is inherited in a (…?) pattern
A
ATP7B gene
Autosomal recessive
3
Q
Describe the clinical features of Wilson disease
A
- Hepatic problems, e.g. hepatitis, cirrhosis
- Neurological problems, e.g. Parkinsonism
- Psychiatric problems, e.g. depression, psychosis
4
Q
What specific examination finding may be present in a patient with Wilson disease?
A
Kayser-Fleisher rings
5
Q
Which blood test can be used to screen for Wilson disease?
A
Serum caeruloplasmin
6
Q
What is the gold standard diagnostic investigation for Wilson disease?
A
Liver biopsy
7
Q
Describe the management of Wilson disease
A
Copper chelation using:
- Penicillamine
- Trientene
