Hirschsprung Disease, Pediatric
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Hirschsprung disease is a rare condition that affects the large intestine (colon) and can cause constipation. The colon is the last part of the gastrointestinal tract. It functions to absorb fluids and hold stool so that it can be passed out of the body with contractions. In Hirschsprung disease, the colon is missing the nerve cells that control contractions, and the body is unable to move stool out through the rectum normally. This condition is most commonly diagnosed at birth or shortly after.
Hirschsprung disease is a life-threatening disease and requires treatment. Hirschsprung-associated enterocolitis is a serious infection that can occur at anytime, including before or after being treated by surgery.
The cause of this condition is not known, but it may be related to changes (mutations) in genes. It may run in families or be passed from parent to child (inherited). In children who have the disease, it is present from birth (congenital). It happens before birth when nerve cells in the colon stop growing while the colon is developing. Children who are diagnosed with Hirschsprung disease have other congenital conditions that are part of a syndrome. Down Syndrome is the most commonly associated syndrome.
This condition cannot be diagnosed before birth.
This condition is treated with surgery to remove the part of the colon that is missing nerve cells (pull-through procedure). In this procedure, the abnormal part of the colon is removed and the healthy end is pulled through and attached to the rectum.
This information is not intended to replace advice given to you by your health care provider. Make sure you discuss any questions you have with your health care provider.
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