Hirschsprung Disease

What is Hirschsprung Disease?


What is the main cause of Hirschsprung disease?


Hirschsprung's disease is a congenital birth defect that affects the large intestine. It occurs when nerve cells in the colon are not present or are unable to function properly, which causes problems with bowel movements and can lead to other complications. The main cause of Hirschsprung's Disease is an absence of nerve cells in the rectum that control peristalsis (the movement of food through your intestines). This condition prevents waste from being passed out of your body and results in constipation and/or diarrhea.
The most common symptom for this condition is chronic constipation, but it may also include:
-frequent episodes where there is no stool passage at all;
-a feeling like you need to have a bowel movement even though nothing comes out;
-painful stomach cramps; or
-diarrhea alternating with periods when you don't go at all.


What is the treatment for Hirschsprung disease?



The treatment for Hirschsprung disease is a colectomy, which removes the section of the colon that does not have nerve cells. The surgery can be done either through an open incision or laparoscopically.


What are the treatment options for Hirschsprung disease?

Hirschsprung disease is a birth defect that affects the large intestine. The rectum and colon do not have any nerves, so they cannot sense when there is stool in them. This means that people with Hirschsprung's disease often experience constipation or diarrhea because their bowel does not empty properly.
Treatment for this condition can vary depending on how severe it is but may include laxatives, surgery to remove part of the intestines (colon), or even surgery to create an opening between the small and large intestines (ileostomy).


What is the gene involved in Hirschsprung disease?


Hirschsprung's disease is a genetic disorder that affects the intestines and colon. It occurs in approximately 1 out of every 5,000 births and is more common in males than females. The gene involved in Hirschsprung's disease encodes for an enzyme called alpha-N-acetylgalactosaminidase (NAGALASE). This enzyme helps to break down certain sugars found on cells lining the gastrointestinal tract (epithelial cells) into smaller molecules that can be absorbed by other parts of the body. Without this enzyme, these sugars accumulate inside intestinal tissue causing damage to it over time.

The symptoms of Hirschsprung’s Disease include constipation, diarrhea or both; difficulty passing stool; abdominal distention; and failure to thrive because food isn't being digested properly due to lack of bowel movement   . A person with Hirschprung's Disease may also experience episodes where they have no bowel movements at all known as "stool impaction." These are often accompanied by vomiting which causes dehydration if not treated quickly enough. Other signs are chronic rectal bleeding from anal fissures or hemorrhoids caused by straining during bowel movements or fecal incontinence when trying hard not to pass gas while holding back stool  . If left untreated, complications such as megacolon can occur which leads to life threatening conditions like toxic megacolon syndrome where bacteria leaks through damaged tissue into the bloodstream leading eventually death without surgery or antibiotics  . Biopsies taken during surgery will show shortened muscle fibers around affected areas meaning there was never any nerve supply present after birth since nerves grow before muscles do so they would have been cut off prematurely preventing them from reaching their destination on time resulting in permanent damage done early on


How does peristalsis work to move food through your body?

How does peristalsis work to move food through your body?
Peristalsis is the process of contraction and relaxation of muscles in the gastrointestinal tract that moves food along. This movement starts at the esophagus, which contracts and relaxes to push food down into the stomach. The stomach then contracts and relaxes to mix up this new batch of food with digestive juices before sending it on its way again. As it travels further down, more contractions occur until finally reaching your rectum where a final set of contractions pushes out any waste material left over from digestion (including gas).


How do you know if you have constipation or diarrhea and what should be done about it?

Hirschsprung's disease is a birth defect that can cause problems with the nerves in your intestines. The nerve cells normally tell the muscles to contract and push stool through your colon. If you have Hirschsprung's Disease, those cells don't work properly and this causes constipation or diarrhea (or both).
There are two ways to find out if you have Hirschsprung's Disease: You can get an X-ray of your belly before surgery for other reasons, such as a broken bone; or you may need surgery for another reason first and then doctors will take some tissue from near where they cut into your body so they can look at it under a microscope. They'll be able to see whether there are any signs of Hirschprung’s Disease.
If someone has been diagnosed with Hirschsprung’s disease, treatment usually starts right away because it could lead to serious complications like bowel blockages which require emergency surgery. Treatment includes removing part of the large intestine that doesn't contain nerves or taking medicine called "neostigmine" that helps make more muscle contractions happen in order to move food along faster through the digestive tract


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