Wilson disease Flashcards
1
Q
What is wilson disease?
A
It is excessive amount of copper build up in body + tissue
Caused by mutation in wilson disease protein on chromosme 13 ( ARP7B copper binding protein)
2
Q
Features of wilson disease?
A
Hepatic problems ( 40%)
Neurological problems ( 50%)
Psychiatric problems ( 10%)
Haemolytic anaemia
Renal tubular damage
Osteopenia
3
Q
Diagnosis of Wilson disease?
A
Serum caeruloplasmin test ( If increase wilson disease)
Liver biopsy
4
Q
Managment of wilson disease?
A
Treatment is copper chelation
- Penicillamine
- Trientene
5
Q
main features of wilson disease?
A
It is a autosomal ressesive disease
Kayser- Fleischer ring is main symptom of wilson disease = copper around eyes.
