Hirschsprungs disease
Hirschsprung’s disease is a pathology of the development of nerve endings localized in the large intestine (agangliosis), which has an innate character. The disease can manifest itself by constipation and absorption disorders in the large intestine, since the affected intestine loses the ability to evacuate feces. In the case of a mild and sluggish form of this pathology, patients can learn about its presence only in adulthood, with a severe form of Hirschsprung’s disease, stagnation of meconium (primordial feces) develops in the intestines of a newborn. Diagnosis of the disease is carried out by endoscopic and X-ray examination of the intestine. The method of choice for this disease is surgical treatment, during which the affected areas of the intestine are removed.
The content of the article:
Causes of Hirschsprung’s disease
Symptoms of Hirschsprung’s disease
Diagnosis of Hirschsprung’s disease
Treatment of Hirschsprung’s disease
Minimizing negative consequences
Prevention of Hirschsprung’s disease
Hirschsprung ‘s disease
Causes of Hirschsprung’s disease
Hirschsprung’s disease is a congenital disease, the development of which occurs in utero, scientists believe that one of the main etiological factors is the lack of nutrients in the mother’s body during fetal development. Due to the lack of necessary substances, during the development of innervation of the digestive system of the fetus, areas of the large intestine appear that do not have nerve endings, often specialists cannot determine the cause of this disease.
The length of the area with missing innervation can be different: from a few centimeters to the entire area of the large intestine. Not infrequently, such pathology is transmitted by inheritance, about 50% of patients suffering from Hirschsprung’s disease have a history of close relatives with the same ailment.
There is an assumption that the dysfunction of the development of the intestinal nervous system is provoked by a mutation in the structure of DNA genes.
In newborn boys, this disease occurs 4-5 times more often than in girls.
Symptoms of Hirschsprung’s disease
The intensity of the symptoms depends on the severity of the disease (the extent of the intestinal lesion).
In most cases, the clinical manifestations of this disease are diagnosed in the first days of a child’s life, sometimes in adolescence or adolescence, in adulthood it is rarely detected.
In newborns, the main symptoms of Hirschsprung’s disease are: lack of feces (meconium) in the first days of life, increased gas formation, vomiting (in some cases with bile), there are also other dyspeptic disorders (diarrhea, constipation).
In older childhood, there may be an increase in abdominal volume, a predisposition to persistent constipation, the development of malabsorption syndrome and, as a consequence, a lag in growth and development. As a result of frequent blood loss with feces, anemia may develop, infection may join and enterocolitis may develop. In the case of an infectious intestinal lesion, hyperthermia, vomiting and diarrhea are noted. Severe intoxication contributes to the expansion of the colon.
In adults, Hirschsprung’s disease is manifested by the lack of urge to empty the rectum, spastic pains along the course of the colon, bloating, intoxication of the body caused by the toxicity of accumulated substances. Sometimes a clinical sign of Hirschsprung’s disease is partial heterochromia — uneven coloring of the areas of the iris of the eye.
Diagnosis of Hirschsprung’s disease
In order to diagnose Hirschsprung’s disease, a number of instrumental studies and functional tests are performed on the patient.
Rectal examination
During the rectal examination, it is possible to detect an empty ampoule of the rectum, as well as to determine the functionality of the sphincter.
Rectoromanoscopy
With the help of rectoromanoscopy, an obstacle is determined when passing through the affected parts of the rectum, the absence of fecal masses in them, a sharp transition from the narrowed distal parts of the intestine to the enlarged proximal parts of the rectum, the presence of fecal stones or masses in them, regardless of the qualitative preparation for the study.
Irrigography
Irrigography makes it possible to see long, enlarged loops of the large intestine spreading throughout the abdominal cavity, their diameter can be from 10 cm or more.
Using a contrast agent
The diagnosis of this pathology is quite productive when using contrast agents. During the passage of the barium suspension, the contrast agent freely overcomes the upper parts of the gastrointestinal tract, and in enlarged areas of the colon there is a pronounced delay of the barium suspension (up to several days).
Colonoscopy
To confirm the presence of non-innervated areas of the rectum, a colonoscopy is performed, during which a biopsy sample is often taken for morphological examination.
Other diagnostic methods
In order to clarify the reliability of the diagnosis, it is important to perform a differential diagnosis, during which ultrasound examination of the abdominal cavity is sometimes recommended. Swollen and enlarged intestinal loops are determined during X-ray examination.
Treatment of Hirschsprung’s disease
The correct treatment of Hirschsprung’s disease is carried out by the only method — surgical. During the surgical intervention, the affected area of the colon is removed and the terminal section of the intestine is connected to its healthy section.
Basically, all stages of this operation are always carried out within one surgical intervention, but there are exceptions — the operation in such cases consists of two stages. At the first stage of the two-stage operation, resection (excision) of the affected part of the intestine and colostomy (removal of the end of the healthy intestine outside, by means of an incision on the abdomen) are performed. Evacuation of feces occurs in a special container that the patient has to carry with him. After normalization of the patient’s intestines, they proceed to the second stage of the operation — intestinal reconstruction, the task of which is to connect the free end of the healthy intestine with the rectum and close the colostomy (suturing the hole on the abdomen).
As a rule, after surgery to eliminate the affected areas of the intestine, the process of digestion and excretion of feces gradually normalizes in patients, that is, complete recovery occurs. Sometimes patients may notice a tendency to constipation, but this problem is eliminated with the help of laxatives.
Minimizing negative consequences
To minimize constipation, diarrhea and other adverse events after surgery, patients are recommended to adhere to a special diet based on the use of food rich in plant fiber in the diet.
The risks of postoperative complications include the development of enterocolitis due to intestinal infection, therefore, with an increase in body temperature, vomiting, diarrhea, signs of intestinal bleeding, it is necessary to immediately consult a doctor.
With a mild course of Hirschsprung’s disease, it is possible to refuse surgical interventions and perform symptomatic treatment by setting up siphon enemas.
Prevention of Hirschsprung’s disease
Due to the intrauterine development of this pathology and the presence of genetic factors, Hirschsprung’s disease is almost impossible to prevent. To exclude the risk factor of this disease due to the lack of nutrients at the stage of intrauterine development of the fetus, pregnant women need to provide a balanced diet rich in useful vitamins and trace elements. Early diagnosis helps to avoid complications of this pathology.
