Hirschsprung Disease

Question 1

hirschsprung disease

Answer 1

• parts of colon lacks the parasympathetic ganglia (neural cells) needed for peristalsis–> unable to perform peristalsis

Question 2

etiology

Answer 2

RET (proto-oncogenes) on Chr 10 mutation

Question 3

RET (proto-oncogene) Fx

Answer 3

responsible for cell signaling –> codes for proteins that produce mediators that deliver info about cellular structures, esp neural cells (important in embryogenesis)

Question 4

patho

Answer 4

areas of colon lack parasympathetic ganglia –> no local peristalsis –> accumulation of content at affected areas –> distention of colon & abdm

Question 5

cmplx

Answer 5

rupture of the colon

Question 6

tx

Answer 6

surgically remove area of colon w/o ganglia and then anastomose the two ends of the unaffected colon (aganglionic segment removed)