Hirschsprung Disease

Question 1

who is more at risk?

Answer 1

higher incidence in boys

Question 2

statistics of babies who will develop this disease?

Answer 2

1 in 5000 births

Question 3

which gene on which chromosome is affected and what is the role of this gene?

Answer 3

RET (proto-oncogene) on chr 10 mutation

-gene is responsible for cell signalling (gene codes for proteins that prod mediators to deliver info about cellular structures, esp neural cells)

Question 4

what is the RET gene important in?

Answer 4

embryogenesis

Question 5

what will happen to the colon if this gene is mutated?

Answer 5

colon requires specialized neuronal cells to initiate peristalsis, but if gene is mutated, then parts of the colon will lack parasympathetic ganglia (neural cells) and will not be able to perform peristalsis

content in the colon will not be able to move forward at the affected areas -> accumulation of contents -> colon distention -> abdominal distention -> obstr -> perf d/t increased intralumenal pressure

Question 6

complication

Answer 6

rupture/perforation of colon

Question 7

treatment

Answer 7

surgically remove the aganglionic segment