Infant Disorders: Hirschsprung Disease Flashcards
What is Hirschsprung Disease (HD)?
Part of the colon lack parasympathetic ganglia (neural cells) –> peristalsis does not occur
Which gender does it mostly affect?
mostly boys
Prevalence?
~1 in 5000 live births
Genetic or Congenital prob?
Genetic prob
Etiology of HD: What gene cause HD and what chromosome?
RET gene on Chr. 10
What does RET stand for? What does it do? What protein does it code for? What does the protein do?
- RET = rearranging during transfection
- it is responsible for cell signalling for development of cell division
- RET protein
- RET protein produce mediators to deliver info about cellular structures esp. neural cells
After cell division, what does RET help cell do?
help cells to differentiate
If RET is mutated, what 2 things happen? Which mutation result in HD?
- increase in function: more signalling, transformation of cells, proliferation, and differentiation of cells –> in adults results in CA
- decrease in function: less signalling, transformation of cells, proliferation, and differentiation of cells–> results in Hirschsprung disease
Pathophysiology of HD
areas of colon lack PS ganglia–> no local peristalsis–> accum. of content–> distention of colon and abdomen
Complications of HD
risk for obstruction and rupture in colon–> needs repairment
What happens when there’s no PS ganglia?
impulse from brain for relaxation and contraction of muscle will not happen
Colon requires specialized ______ ____ to initiate peristalsis
neuronal cells
Treatment for HD? How?
sx to remove area of of colon w/ no ganglia and then anatomize the two ends of unaffected colon
What is removed in sx? Where?
removal of aganglionic segment
usually in colon and small intestine
Is sx the only option?
yes
