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It is a congenital disease associated with the absence of a ganglion (parasympathetic) in the wall of the end of the large intestine, most often in the rectum itself.
The disease is named after the Danish pediatrician Harald Hirschsprung, who in 1888 described the medical stories of two unrelated boys who died of chronic constipation.
The essence of the disease is the lack of intramuscular and submucosal ganglia in the distal (end) segment of the large intestine. Abnormal innervation of the intestine causes that the peristaltic wave is not conducted and the aganglionic segment is in a state of permanent contraction. This, in turn, contributes to the obstruction of the intestine. The dominant symptom of the disease is chronic constipation.
In severe forms, the disease can affect the entire large intestine and even the small intestine. 80 percent cases of the disease concern boys. Its prevalence is estimated at 1/5000 live births. About 15 percent children have other birth defects with Hirschsprung’s disease, such as heart defects or Down’s syndrome.
The causes of the disease
The disease can be both dominant and recessive. To date, eight genes involved in the pathogenesis of Hirschsprung’s disease in humans have been identified. In about 30 percent. In cases, it occurs as a component of congenital syndromes, in the remaining patients it is an isolated defect, i.e. occurring singly. In 18 percent patients also have other birth defects associated with chromosomal aberrations. The most common cause of the disease is trisoma 21, or Down’s syndrome, which is diagnosed in 2 to 10 percent of people. patients with confirmed Hirschsprung’s disease. For cases with trisomy of the 21st chromosome, a much higher prevalence (frequency of a given disease at a given time, regardless of the time of disease onset, per 10 or 100 people) of disease in men is characteristic (M: K 5,5-10,5 , XNUMX).
Symptoms
The first symptoms appear as soon as the baby is born. A healthy newborn gives meconium in the first 24 hours of life. In contrast, in Hirschsprung’s disease, meconium is excreted after 48-XNUMX hours. The child develops vomiting, abdominal distension, foul, watery stools, fever and apparent weight loss. Older children also suffer from delayed physical and intellectual development, chronic constipation, the serious complication of which is acute inflammation of the small and large intestine, sometimes intestinal perforation, abscess or sepsis.
Diagnosis and research
In order to make a correct diagnosis, the doctor must perform an X-ray examination of the abdominal cavity, contrast rectal infusion (water contrast in newborns, baritic in older children), rectal manometric examination (this is the assessment of internal anal sphincter tension), and, above all, a biopsy of the mucosa and rectal muscles. The collected samples are sent for histopathological and histochemical examination. After diagnosis, symptomatic treatment of Hirschsprung’s disease begins, which consists in cleansing the intestines of fecal masses and regular use of rectal enemas. In newborns, the infusions are made of saline. In older children, suppositories and oral osmotically active drugs (lactulose, polyethylene glycols-PEG) can be used. These drugs are not digested in the digestive tract, so they increase the absorption of water in the large intestine and relax the fecal masses. They can be used for a long time.
Basic treatment
The mainstay of treatment for Hirschsprung’s disease is surgery to remove the aganglionic section of the intestine. Surgical treatment is carried out in one stage, when there are no inflammatory changes in the intestine, it is undamaged and sterile, and in two stages, it produces a colostomy, and then resection of the changed section with colostomy removal.
The operations are performed using various techniques.
Swenson’s method – consists in removing the entire aganglionic section of the intestine by evolving the rectum through the rectal canal to the outside, and then joining the properly innervated intestine with the anus. This method is sometimes called end-to-end.
The Duhamel method – its purpose is to leave the rectal bubble in the aganglionic section of the intestine and to fix the correct fragment of the intestine behind the rectum through the external anal sphincter. Then the aganglionic section is removed and the end of the intestine joins the side of the rectum. The resulting end segment of the intestine consists of the aganglionic segment of the rectum at the front and the functionally normal intestine at the rear. In the classic Duhamel method, staplers are used for anastomosis.
Metoda Soavego – the rest of the intestine is passed through the aganglionic section of the rectum. Thanks to this, an abnormal section of the intestine is bypassed. During the operation, the mucosa of the aganglionic part is removed and a cuff of some kind is created. The properly functioning intestine is then passed through the formed cuff and anastomotic.
Methoda Rehbeina – after the opening of the abdomen, the anterior aganglionic section of the intestine is removed and a short exaggerated section is left retroperitoneally. Then, intestinal anastomosis is performed from the side of the abdominal cavity, most often with a stapler.
The most common postoperative complications include stricture of the intestine at the site of anastomosis, prolapse of the rectal mucosa, infection, staining of the linen, and disturbed intestinal motility.
In infants, surgery to remove the aganglionic section of the intestine is performed when the child reaches the appropriate body weight (5-6 kg) or as late as 2 years of age.
Genetic counseling
When a child is diagnosed with Hirschsprung’s disease, consultation with an experienced clinical geneticist is necessary. The aim of the consultation is to identify a specific set of congenital malformations and to develop a diagnostic program to identify them. It is also important to determine how the disease itself is inherited. Parents of children with isolated Hirschsprung’s disease should know that if more children are born, the defect may recur. Sometimes genetic tests are used to determine a molecular defect, but they are not 4% reliable. The overall risk of the disease in the offspring of the probate (the person for whom the degree of relationship is determined) is estimated at 1 percent. In isolated Hirschsprung’s disease, the exact risk of developing the disease in children depends on the sex of the patient and the child, and the length of the aganglionic segment. It ranges from 33 to XNUMX percent.