Hirschsprung disease is a congenital disorder, which means it is present from birth. It affects the function of the bowel by causing a lack of nerve cells at the end of the bowel. These nerve cells play a crucial role in controlling gut function, including the movement of food through the small and large intestine, as well as the absorption of nutrients and the elimination of stool. As a result of this condition, the body’s ability to eliminate stool is significantly impacted.
Understanding the Different Types of Hirschsprung Disease
Hirschsprung disease is categorized into two types, namely short-segment and long-segment. The short-segment variation primarily affects the sigmoid colon and the rectum, which are the final sections of the large intestine. On the other hand, the long-segment type involves a more extensive portion of the large intestine, and in some cases, it may also affect certain sections of the small intestine. Regardless of the specific type, the common characteristic is that the stool progresses through the bowel normally until it reaches the segment without the presence of nerves. At this point, the stool either stops or significantly slows down its movement.
Causes of Hirschsprung Disease
Hirschsprung disease can have various causes. It is frequently associated with other syndromes or chromosomal abnormalities, but it can also occur as an independent condition. The exact genetic factors contributing to the development of the disease are not fully understood. In some instances, a single genetic mutation is responsible, whereas in others, multiple mutations play a role.