Hirschsprung's disease

Hirschsprung's disease according to the author is a severe congenital disease, described for the first time in 1888 by a pediatrician from Denmark. Other names are agangliosis or HSCR. Anomaly is the underdevelopment of part of the large intestine, expressed in the total absence of nerve ganglia responsible for peristalsis. Therefore, the main symptom is long constipation.

Prevalence

Frequency of detection of Hirschsprung's disease 1 case per 5 thousand newborn infants. It was found that boys are subject to an anomaly 4 times more than girls. In 9% of patients pathology is combined with Down's syndrome. Usually it occurs in children under 10 years of age, very rarely Hirschsprung's disease is diagnosed in adults.

What disorders of the intestine are possible with the disease?

Agangliosis is most often affected by the rectum and the adjacent sections of the sigmoid. A rare phenomenon is the spread of pathology to the entire large intestine. Histological examination in the intestinal wall does not reveal nerve nodes (ganglia) in the submucosal and muscular layer (Auerbach and Meissner's plexus).

It is they who are obliged to transmit impulses to the muscles and cause their wave-like contraction. There remain hypertrophic, ineffective nerve fibers. The larger the lesion zone, the harder and brighter the clinical course of the disease.

In the photo, an adult with Hirschsprung's disease before and after surgery

Causes of development

Nerve cells accumulate in the fetus for 5-12 weeks of pregnancy. These are the future ganglia, which will enter the oral cavity and the muscular wall of the intestine up to the anus.

As a result of the failure of the processes for an unclear reason, certain zones of the intestine remain "empty". The degree of defeat is determined by the number of such sites. Modern studies consider the mutation of responsible genes as the "culprit" of pathology. Currently, 10 genes and 5 loci have been identified, which are associated with the development of agangliosis.

Changes in 70% of patients form a separate disease, 18% - are part of various hereditary syndromes, 12% are associated with chromosomal abnormalities. The inheritance type is not yet installed.

Isolated disease is confirmed by changes in the RET gene. It found a violation of the sequence of amino acids in half of family cases, in 15% of patients without connection with inheritance (sporadic cases). From 3 to 7% is accounted for the EDNRB and EDN3 genes.

Hereditary syndromes, accompanied by aganglion, are formed when the neural crest forms in the embryo. From this formation in the future, the nervous, endocrine, cardiac tissues, facial skeleton are formed. Therefore, mutations cause malformations of the heart, bone skeleton, nervous and endocrine system.

Classification

Depending on the localization, the prevalence of the lesions is determined by the forms of Hirschsprung disease:

• Rectal(includes the ampullar, nadamplyarnuyu, perineal) - aganglioz found in 25% of patients in the rectum.
• Rectosigmoidal- the most frequent localization, is detected in 70% of patients, it can cover only the area adjacent to the rectum or affect the entire sigmoid colon.
• Segmental- 1.5% of cases, one or two affected segments in the rectosigmoidal zone are formed.
• Subtotal- have 3% of all patients, spreads only to the left half of the large intestine or captures the right side.
• Total- is rarely detected, 0.5% in frequency, causes aganglionosis of the entire colon, a transition to the small intestine is possible.

Scheme of the main anatomical forms of Hirschsprung disease

Symptoms and course

Disease Hirschsprung in children manifests severe constipation. Symptoms are found 24-48 hours after delivery because of the absence of meconium from the newborn child. All clinical signs are divided:

• for early - from the first days after birth, in addition to the absence of stool, there is an increase in the abdomen, flatulence, if the disease begins at an older age, then the symptoms of Hirschsprung's disease are provoked by the introduction of complementary feeding to breastfeeding;
• late - similar to rickety chest, anemia, lag in weight gain, stool stones, signs of intoxication, delayed development.

To achieve bowel movement, the child has to put enemas. Fecal masses are solid. Decreased urge to defecate until complete absence. Patients are able to:

• pain along the bowels;
• increased gassing, flatulence;
• increase in the size of the abdominal cavity;
• paradoxical diarrhea;
• violation of all types of metabolism;
• the development of anemia (anemia);
• propensity to acute infections;
• nausea and vomiting;
• sudden temperature rises.

The signs of Hirschsprung's disease in adults include:

• prolonged constipation;
• disappearance of urge to defecate;
• increased gassing, constantly swollen abdomen;
• intoxication is expressed in fatigue, inability to work or study for a long time, in headaches, insomnia.

Stages of the disease

During the course of the disease, it is common to distinguish three stages. In addition, each is divided into 2 degrees of severity.

Compensation stage

It develops from the first days of a baby's life. Violation of feces, pediatricians are advised to put enemas, check the nutrition of the nursing mother. When trying to introduce complementary feeding, constipation becomes more stubborn, the child has bloating.

In the first degree - to compensate for pathology it is possible to change the type of food, enemas. At the second degree of disturbance - constipation and flatulence occur at the slightest deviation from the diet.

Dyspeptic manifestations are characteristic already for the initial stages of pathology

Stage of subcompensation

Serves as a transition period to decompensation and back. Deterioration of the state determines the need for siphon enemas.

Stage of decompensation

Characterized, in addition to the listed characteristics, the growing symptoms of intoxication, vomiting, lack of appetite in the child, a slight improvement after enemation at the first degree and the lack of any response to conservative therapy, the phenomena of disrupted development - the second.

In adults, Hirschsprung's disease appears if the affected areas are small in area. Pathology retains compensation for a long time. A mild course in childhood allows you to consult a doctor already an adult.

Manifestations are stimulated by the transferred diseases of the stomach and intestines, pathology of the pancreas. Often the first symptoms are vague abdominal pains, flatulence. Attempts to establish defecation with laxatives are not always successful, and addiction is developing rapidly.

Ways to identify the problem

To suspect Hirschsprung's disease, a doctor may, after examining the ampoule part of the rectum with the help of a sigmoidoscope. The procedure is available in any clinic. In the ampulla there are no stools after the prepared preparation for the procedure. The above are stone-like formations.

Fibrocolonoscopy is performed under short-term anesthesia. The method allows to examine the inner surface of the large intestine, to take material from suspicious areas of the mucosa for histological examination (biopsy).

With the help of a biopsy, the final diagnosis is made. Only this study makes it possible to identify the absence of ganglia. The activity of the mediator of parasympathetic fibers of acetylcholinesterase responsible for the transmission of the nerve impulse is determined by the method of special histochemical staining of the sections.

On iriscopy there are uneven narrowing in the lower part of the intestine, overflow and stagnation in the upper part

X-ray diagnostic methods (fluoroscopy with preliminary reception of contrasting barium mixture or its introduction in enema-irrigoscopy) - make it possible to trace the motility of the intestine, to reveal non-contracting areas, disturbed patency, lengthening and widening of loops, constriction zones, mechanical obstruction due to neoplasms.

The method of anorectal manometry - is conducted, since the older age of children, gives information on the tone of the anorectal muscles, the joint coordination of the sphincter and intestinal wall. Genetic analysis - the study of a specialized laboratory in zones 10 and 11 of the RET gene, the identification of other genotypes is considered to be of little informative.

What diseases should distinguish Hirschsprung's disease?

Differential diagnosis of agangliosis requires comparison of symptoms and findings of the survey:

• with a meconium stopper in newborns;
• stenosis of the terminal ileum;
• varieties of intestinal obstruction;
• megacolon - also an inherited pathology, but consists in increasing the size of the large intestine without the areas of aganglion;
• dolichosigma - characterized by the expansion and elongation of the sigmoid part of the intestine, additional loops are formed, pediatricians associate such disorders with the cause of constipation in 40% of children;
• habitual constipation due to intestinal atony.

It is checked "complicity" of the absence of ganglia in the large intestine with various endocrine disorders, hypovitaminosis, tumor formations.

Megacolon can be formed as a result of a prolonged course of Hirschsprung's disease

How is Hirschsprung's disease treated without surgery?

Treatment of Hirschsprung's disease in children begins with the use of conservative methods. These include:

• special nutrition - infants are prescribed intravenous nutrient protein solutions, older children are recommended to include in the daily menu products that enhance peristalsis (from vegetables - boiled beets, cabbage, carrots, fruits - apples, plums, apricots, kefir, buckwheat and oatmeal are mandatory)
• ; therapeutic physical culture and stomach massage in a clockwise direction;
• purifying and siphon enemas;
• vitamins - are prescribed for the purpose of detoxification and strengthening of immunity;
• drugs-probiotics - contribute to the maintenance of the composition of the intestinal flora.

Conservative treatment is effective in rare cases with rectal and segmental lesions. Surgical method - the main, but involves the preparation of a patient with the help of therapy.

Use of surgical treatment

Hirschsprung's disease in newborns threatens to disrupt the child's development, joining the infection. Operation in severe cases is recommended to be carried out as soon as possible for emergency indications.

When examining the intestine at the time of surgery, the surgeon in appearance distinguishes a portion of the intestine that is devoid of innervation: pale, thinned, atonic

The essence of the intervention: the resection (removal) of the inferior part of the intestine and the formation of an anastomosis between the remaining part and the anus. During the operation, surgeons try to keep the intestine as much as possible. From existing methods, the individual for a particular child is selected depending on the age, stage and extent of the lesion, the probable risk of complications.

Concerning the planned treatment, the opinions of the children's surgeons diverge. Some - recommend the baby to ensure the formation of colostomy until the year - at the first stage to withdraw the end of the intestine on the skin of the anterior abdominal wall. Dedicated feces will be collected in the kalopriemnik.

The second stage is recommended to be spent at the senior age. The hole on the abdominal wall is sutured, and the healthy end is joined by the large intestine and the straight line. With a satisfactory state of patients, the operation is postponed until two or four years of age. This time is constantly conducted conservative therapy.

A two-stage technique with the imposition of colostomy is considered a traumatic intervention, so another opinion proves the necessity and possibility of combining the stages of treatment. In specialized clinics of a child with Hirschsprung's disease operate in one stage and even use transanal access without opening the abdominal cavity.

Observations of surgeons show that different types of interventions are used. The need for resection of the ileocecal section and imposition by the ileostom remains the most frequent (33.3% of all operations). 20% of patients need right-sided hemicolectomy (removal of the ascending and cecum). Combined resection of the large intestine and straight line is necessary for 13.4% of patients.

One of the options for connecting the ends of the intestine after resection of the site between them

What is needed in the postoperative period?

After the operation, patients need a recovery period of up to six months. Duration depends on the degree of severity before the intervention. There is always a high risk of infection in the field of intervention. About this doctor is judged by the temperature increase, the occurrence of vomiting, diarrhea, bloating.

The correct act of defecation does not form immediately. In ¼ operated children, there may be stool retention or involuntary stool departure. Such a course is more often observed in children with other lesions of internal organs.

Gradually the stool is normalized. Weighing the child shows the normalization of weight gain and physical development. Surgeons observe an operated child of at least 1.5 years.

Care of the child will require regular control of the stool, it is necessary to pay attention to its consistency

Parents are advised to:

• to ask the child about the sensations, to reveal the development of discomfort;
• to organize a dietary diet, to observe a mode of feeding;
• Until a reflex to defecation is formed, it is necessary to perform cleansing enemas at the same time;
• Regularly engage in physical therapy with the child.

Possible complications

Without surgical treatment a child becomes an invalid because of constant enemas, violation of all types of metabolism, anemia. To pathology often join and acquire a chronic course of diseases such as enterocolitis with inflammation of the small and large intestine; intestinal obstruction due to calculous stones.

The accumulation of slags causes progressive intoxication. Possible damage and rupture of the intestinal wall with stool stones with the development of peritonitis and fatal outcome.

Forecast

Timely surgical treatment allows to avoid complications and to achieve recovery of 96% of patients. With the refusal of parents from the operation in infancy, the lethality reaches 80%.

Constipation is a serious problem in the functioning of the intestine. The appearance in childhood requires the identification of the cause and the optimal treatment. Postponing the operation and unauthorized reception of various folk remedies leads to complications, the need for intervention according to vital indications.