Hirschsprung disease


What happens when there is a gene change causing Hirschsprung's disease?

When a gene mutation causing Hirschsprung disease (HSCR) occurs ganglia, or nerve cells, do not connect to the colon like they are supposed to. The colon, or large intestine, is the last part of the digestive system and transports digested food and liquid from the small intestine to the rectum. When nerve cells do not connect to the colon, infants and children with HSCR cannot move the muscles of the colon. Without movement, waste products cannot travel through the colon to be released. This causes the symptoms of HSCR including failure to pass stool, diarrhea, vomiting and trouble gaining weight or growing. If your infant or child is having symptoms of HSCR speak with their doctor about HSCR and how to make a formal diagnosis.

"Hirschsprung’s Disease" National Organization for Rare Disorders. 2005. https://rarediseases.org/rare-diseases/hirschsprungs-disease/#standard-therapies

Wesson, David. "Congenital aganglionic megacolon (Hirschsprung disease)" UpToDate. May 2016. Web. 14 Jun. 2016. http://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease?source=search_result&search=Hirschsprung%E2%80%99s+Disease&selectedTitle=1~66

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