Wilson's disease Flashcards
1
Q
Defect in ATP7B Gene results in which autosomal recessive disorder?
A
Wilson’s disease.
2
Q
what is the ATP7B gene responsible for ?
A
Transportation of copper to Bile.
3
Q
A young patient with chorea presents with Cirrhosis and Keyser-fleisher rings. What is the most likely dx?
A
Wilson’s disease
4
Q
what are the classic presentation of Wilsons disease?
A
Cirrhosis, Parkinsons syndrome, Kayser-fleisher cornea rings.
5
Q
Copper on liver biopsy shows what dx?
A
Wilsons disease.
