Hirschsprung Disease Flashcards
1
Q
T or F:
Females are more likely to be born with hirschsprung.
A
F, males are.
2
Q
What is the Et of hirschsprung/
A
A mutation on the “rearranged during transformation” (RET) gene on chromosome 10
3
Q
What is the RET gene involved in?
A
- Cell signalling for development of neural cells
- Development in general ?
4
Q
What is the patho of hirschsprung?
A
Areas of the colon lack parasympathetic ganglia -> no peristalsis -> accumulation of content -> colon and abdominal distension
5
Q
What is the Tx of hirschsprung?
A
Removal of the area without parasympathetic ganglion.
