You may not have heard of it, but Hirschsprung 's disease is a congenital pathology of the intestine, which often goes unnoticed and should be known to all.
Normally, during digestion, the intestine performs movements (known as peristalsis) that allow the passage of the food bolus through the entire gastrointestinal tract. The signal that causes the intestine to move comes from a network of nerve fibers, which are found in the intestinal mucosa.
In Hirschsprung's disease, these fibers are absent in some part of the intestine because they were not formed correctly during the embryonic development process, which causes the intestine not to relax in certain segments, causing an intestinal obstruction. Due to the absence of these fibers the disease is also called aganglionic megacolon.
This disease can affect a part of the intestine (generally the sigmoid rectum) called short segment disease, or spread to the descending colon, which is known as long segment disease. It can also affect the entire colon, having an even more severe course.
Who is affected by Hirschsprung's disease?
It is known that 1 in 5,000 live births has the disease, and that it is three times more common in males than females.
Although Hirschsprung 's disease is a congenital pathology (the individual is born with it), in mild cases it is not diagnosed until adulthood, being an infrequent cause of chronic constipation and intestinal obstruction.
Causes of Hirschsprung's disease
The main cause of Hirschsprung 's disease is a defect in embryonic development. The nerve cells found in the colon come from a structure called the neural crest, which between weeks 4 and 7 of gestation migrate to form different types of cells in the fetus that is developing in the womb.
In Hirschsprung's disease, these cells do not migrate to all parts of the colon, producing a defect in the mobility of the intestine when the individual is born.
This defect in embryonic development is due to genetic alterations of proteins responsible for the migration of neurons from the neural crest. This disease is also related to some chromosomal defects such as Down syndrome (also called trisomy 21).
In certain cases, the cause of Hirschsprung 's disease is a genetic, hereditary and familial disorder.
Symptoms of Hirschsprung's disease
Most patients manifest symptoms of Hirschsprung's disease in the first two days of life. Only 10 out of 100 patients with Hirschsprung's disease are diagnosed after 3 years of life and exceptionally in adulthood, but this will depend on the severity of their condition.
Usually, in a newborn, the first evacuation (called meconium) is evident in the first hours of life. If this evacuation is absent, constipation is diagnosed and differential diagnoses must be made to explain this situation.
If the newborn's rectum is patent, that is, if the presence of an imperforate anus and other gastrointestinal malformations is ruled out, then Hirschsprung's disease can be considered.
The symptoms of Hirschsprung's disease are:
· Constipation: no bowel movements for more than 48 hours.
· Intestinal obstruction: it is an acute condition due to the absence of evacuations at any age, accompanied by abdominal pain, vomiting of bile content and sometimes, with feces, which becomes a surgical emergency.
· Enterocolitis: it is a severe picture of intestinal infection manifested with numerous diarrhea accompanied by mucus and / or blood, fever, abdominal distention, nausea and vomiting of bile content.
· Abdominal pain: generally in newborns it manifests itself as continuous crying that is triggered by moving the child or touching the abdomen.
· Abdominal distention: increased volume of the abdomen secondary to the accumulation of gases.
· Short stature: In children older than 3 years, growth problems are evident.
· General weakness
It is important to explain that in newborns the most common symptoms are the absence of meconium and enterocolitis, while, in children and adults, the main discomfort is chronic constipation but the manifestations will depend on the severity of the condition.
How to treat Hirschsprung's disease?
The treatment of this disease is a surgery that consists of resecting part of the intestine and rejoining the healthy parts of the colon, this procedure is called colectomy plus anastomosis.
Despite the fact that surgery improves most of the cases, some children may have symptoms again, manifesting constipation or diarrhea (enterocolitis associated with Hirschsprung's disease) that could be fatal.
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