Hirschsprung 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.

The symptoms of Hirschsprung disease can become worse if treatment is delayed. Without clearing and/or removing the affected part of the colon, the colon can tear or become inflamed. An affected person can die if these complications occur.

Genes are the basic unit of heredity. Genes are made of DNA and are instructions to make proteins and molecules inside the cells that make up the body. Changes or mutations in genes associated with Hirschsprung's disease cause the condition, but not all people with a gene or mutation change will have Hirschsprung disease. The genes associated with causing isolated Hirschsprung's disease, Hirschsprung's disease that is not part of a larger syndrome, are RET, GDNF, NRTN, EDN3, EDNRB, ECE1, NRG1, NRG3, SEMA3C, and SEMA3D. Most often the gene changes or mutations are seen in the RET gene.

The genetics of Hirschsprung's disease likely are complicated. In some cases Hirschsprung disease may be caused by a single gene change or mutation, but in other cases it is believed that there are several genes working together to cause Hirschsprung's disease and no single gene change can be identified.

If you are concerned that you or your child may have a predisposition for Hisrschsprung disease speak with your physician about this risk, or ask to be referred to a genetic counselor to discuss genetic testing. You can locate a genetic counselor in your area by using the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.