Hirschsprung’s Disease in Infants

ICBC has an active clinical collaboration investigating the role of ion channels in Hirschsprung’s disease. This is a congenital disease causing blockage of the large intestine due to improper muscle movement in the bowel. The disease causes an enlargement of the colon as a result of the bowel obstruction which starts at the anus and progresses upwards, usually affecting about 30cm of the colon. The disease is thought to be due to a lack of nerves innervating the smooth muscle of the colon resulting in a cessation of peristalsis, the process that moves digested material through the intestine. In Hirschsprung’s disease the nerves are missing from a short section of the bowel causing the abdomen of the infant to become swollen.

Hirschsprung’s disease causes about 25% of all newborn intestinal obstruction and occurs more frequently in males than in females. It may also be associated with other inherited or congenital conditions such as Down syndrome.

The current treatment for Hirschsprung’s disease is surgical removal of the abnormal section of the colon with varying degrees of success.

In collaboration with our clinical colleagues and the patient families, ICBC are able to use the resected section of excluded bowel to investigate the ionic mechanisms underlying the condition, looking at the changes in ion channel activity and the response of the tissue to drugs. The goal of this clinical study is to identify less invasive approaches to treating the condition, and to contribute to the body of literature around this disease state.

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