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Hirschsprung's disease (Colon agangliosis, Congenital megacolon)

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According to the author, Hirschsprung’s disease is a severe congenital disease, first described in 1888 by a pediatrician from Denmark. Other names are agangliosis or HSCR. The anomaly is the underdevelopment of part of the large intestine, expressed in the complete absence of the nerve ganglia responsible for peristalsis. Therefore, the main symptom is prolonged constipation.

Prevalence

The frequency of detection of Hirschsprung's disease 1 case per 5 thousand newborn babies. It was found that boys are subject to anomalies 4 times more than girls. In 9% of patients, pathology is combined with Down syndrome. It is usually detected in children under 10 years of age, very rarely Hirschsprung's disease is diagnosed in adults.

What intestinal disorders are possible with a disease?

Agangliosis most often affects the rectum and its adjacent sigmoid regions. A rare phenomenon is the spread of pathology throughout the large intestine. Histological examination of the intestinal wall does not reveal nerve nodes (ganglia) in the submucosal and muscle layer (plexus Auerbach and Meissner).

It is they who are obliged to transmit impulses to the muscles and cause their wave-like contraction. Hypertrophied inoperative nerve fibers remain. The larger the affected area, the harder and brighter the clinical course of the disease.

Development reasons

Accumulations of nerve cells form in the fetus at 5-12 weeks of gestation. These are future ganglia that will be part of the oral cavity and muscle wall of the intestine up to the anus.

As a result of the failure of the processes, for an unclear reason, certain areas of the intestine remain “empty”. The degree of damage is determined by the number of such sites. Modern research considers the mutation of responsible genes to be the “culprit” of pathology. Currently, 10 genes and 5 loci have been identified that are associated with the development of agangliosis.

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

Isolated disease - confirmed by changes in the RET gene. It revealed a violation of the amino acid sequence in half of family cases, in 15% of patients without any connection with inheritance (sporadic cases). From 3 to 7% are in the genes EDNRB and EDN3.

Inherited syndromes accompanied by agangliosis are formed when the formation of a neural crest in the embryo is impaired. From this formation, nerve, endocrine, cardiac tissues, and the facial skeleton are subsequently formed. Therefore, mutations cause malformations of the heart, bone skeleton, nervous and endocrine systems.

Classification

Depending on the localization, the prevalence of the lesion, forms of Hirschsprung's disease are distinguished:

  • Rectal (includes ampullar, nadampular, perineal) - agangliosis is found in 25% of patients in the rectum.
  • Rectosigmoidal - the most frequent localization, is detected in 70% of patients, can cover only the area adjacent to the rectum or affect the entire sigmoid colon.
  • Segmental - 1.5% of cases, one or 2 affected segments are formed in the rectosigmoid zone.
  • Subtotal - 3% of all patients have it, it extends only to the left half of the large intestine or captures the right side.
  • Total - rarely detected, 0.5% in frequency, causes agangliosis of the entire colon, a transition to the small intestine is possible.

Symptoms and course

Hirschsprung's disease in children is manifested by severe constipation. Symptoms are detected 24–48 hours after birth due to the absence of meconium discharge in the newborn. All clinical signs are divided:

  • in the early days - from the first days after birth, in addition to lack of stool, an increase in the abdomen, flatulence is observed, if the disease begins at an older age, then the symptoms of Hirschsprung’s disease are provoked by the introduction of complementary foods for breastfeeding
  • late - like a rickety chest, anemia, lag in weight gain, fecal stones, signs of intoxication, developmental delay.

To achieve bowel movement, the child has to put enemas. Fecal matter is solid. The urge to defecate is reduced to a complete absence. Patients may have:

  • pain along the intestines
  • increased gas formation, flatulence,
  • growth in the size of the abdominal cavity,
  • paradoxical diarrhea
  • violation of all types of metabolism,
  • the development of anemia (anemia),
  • tendency to acute infections,
  • nausea and vomiting,
  • sudden rises in temperature.

Signs of Hirschsprung disease in adults include:

  • prolonged constipation
  • the disappearance of the urge to defecate,
  • increased gas formation, constantly bloated belly,
  • intoxication is expressed in fatigue, inability to work or study for a long time, in headaches, insomnia.

Stage of compensation

It develops from the first days of the baby's life. Disturbed excretion of feces, pediatricians are advised to put enemas, check the nutrition of a nursing mother. When you try to introduce complementary foods, constipation becomes more persistent, the child appears bloating.

In the first degree, it is possible to compensate for the pathology by changing the type of food, enemas. With the second degree of disturbances, constipation and flatulence occur at the slightest deviation from the nutrition scheme.

Decompensation stage

In addition to the listed symptoms, it is characterized by increasing symptoms of intoxication, vomiting, a lack of appetite in the child, a slight improvement after enema in the first degree and the absence of any reaction to conservative therapy, and symptoms of impaired development in the second.

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

Manifestations are stimulated by past diseases of the stomach and intestines, pathology of the pancreas. Often the first symptoms are vague abdominal pain, flatulence. Attempts to establish defecation with laxatives are not always successful, addiction quickly develops.

Ways to Identify a Problem

A doctor can suspect Hirschsprung’s disease after examining the ampoule of the rectum with a sigmoidoscope. The technique is available at any clinic. In the ampoule part, there is no feces after preparation for the procedure. Stone-like formations are visible above.

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

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

X-ray diagnostic techniques (fluoroscopy with preliminary administration of a contrasting barium mixture or its introduction in an enema — irrigoscopy) - make it possible to trace intestinal motility, identify non-contracting areas, impaired patency, lengthening and expansion of loops, narrowing zones, and mechanical obstruction due to neoplasms.

The technique of anorectal manometry - is carried out, starting with older children, provides information on the tone of the anorectal muscles, the joint coordination of the sphincter and intestinal wall. Genetic analysis - a study of a specialized laboratory in zones 10 and 11 of the RET gene, the identification of other genotypes is considered uninformative.

What diseases should be distinguished from Hirschsprung's disease?

Differential diagnosis of agangliosis requires a comparison of symptoms and examination findings:

  • with meconium plug in newborns,
  • stenosis of the terminal ileum,
  • types of intestinal obstruction,
  • megacolon is also an inherited pathology, but consists in increasing the size of the large intestine without areas of agangliosis,
  • dolichosigma - characterized by the expansion and lengthening of only the sigmoid intestine, additional loops are formed, pediatricians associate such disorders with the cause of constipation in 40% of children,
  • habitual constipation due to intestinal atony.

The “complicity” of the absence of ganglia in the large intestine with various endocrine disorders, hypovitaminosis, and tumor formations is checked.

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 given an intravenous injection of nutritious protein solutions; older children are recommended to include peristalsis-enhancing products in their daily menu (from vegetables - boiled beets, cabbage, carrots, fruits - apples, plums, apricots, kefir, buckwheat and oatmeal are required) ,
  • physiotherapy exercises and massage of a stomach in a clockwise direction,
  • cleansing and siphon enemas,
  • vitamins - are prescribed for the purpose of detoxification and strengthening immunity,
  • probiotic preparations - contribute to supporting the composition of the intestinal flora.

Conservative treatment is effective in rare cases with rectal and segmental lesions. The surgical method is basic, but involves the preparation of the patient through therapy.

The use of surgical treatment

Hirschsprung's disease in newborns threatens to impair the development of the child, the accession of infection. Surgery in severe cases is recommended as early as possible according to emergency indications.

The essence of the intervention: a resection (removal) of the inferior section of the intestine and the formation of an anastomosis between the remaining part and the anus are performed. During the operation, surgeons try to preserve the intestines as much as possible. From existing methods, an individual for a particular child is selected depending on the age, stage and degree of damage, the likely risk of complications.

Regarding planned treatment, the opinions of pediatric surgeons differ. Some - recommend that the baby up to a year to ensure the formation of a colostomy - at the first stage, bring the end of the intestine to the skin of the anterior abdominal wall. The excreted feces will be collected in a bag holder.

The second stage is recommended at an older age. The hole on the abdominal wall is sutured, and the colon and rectum connect with the healthy end. With a satisfactory condition of the patients, the operation is postponed until two or four years of age. This time, conservative therapy is constantly carried out.

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

The observations of surgeons show that different types of interventions are used. The need for resection of the ileocecal section and overlay with an ileostomy remains the most frequent (33.3% of all operations). 20% of patients require right-sided hemicolectomy (removal of the ascending and cecum). Combined resection of the colon and rectum is required in 13.4% of patients.

What is necessary in the postoperative period?

After surgery, patients require a recovery period of up to six months. Duration depends on severity prior to intervention. There is always a high risk of infection in the area of ​​intervention. The doctor judges this by the increase in temperature, the occurrence of vomiting, diarrhea, bloating.

The correct act of defecation is not formed immediately. In ¼ operated children, stool delays or involuntary discharge of feces are possible. Such a course is more often observed in children with other lesions of the internal organs.

Gradually, the chair returns to normal. Weighing the baby shows the normalization of weight gain and physical development. Surgeons observe an operated child for at least 1.5 years.

  • to ask the child about the sensations, to identify the development of discomfort,
  • organize a diet, observe the feeding regimen,
  • until there is a reflex to defecation, it is necessary to conduct cleansing enemas at the same time,
  • regularly engage in physical therapy with your child.

Possible complications

Without surgical treatment, the child turns into a disabled person due to constant enemas, violations of all types of metabolism, anemia. Such diseases as enterocolitis with inflammation of the small and large intestines, intestinal obstruction due to fecal stones often join the pathology and acquire a chronic course.

Accumulation of toxins causes progressive intoxication. Damage and rupture of the intestinal wall with fecal stones is possible with the development of peritonitis and death.

Forecast

Timely surgical treatment avoids complications and achieves recovery in 96% of patients. If the parents refuse the operation in infancy, mortality reaches 80%.

Constipation is a serious bowel problem. The appearance in childhood requires the identification of the cause and optimal treatment. The postponement of the operation and the unauthorized reception of various folk remedies leads to complications, the need for intervention for health reasons.

General information

Colon agangliosis (congenital megacolon) is one of the most common abnormalities in the development of digestive organs. According to observations, the prevalence of Hirschsprung's disease in the newborn population is from 1:30 000 to 1: 2 000. In 90% of patients, the disease debuts before 10 years of age. In boys, the anomaly is detected 4.32 times more often than in girls. In 29.0-32.7% of cases, pathology is associated with other malformations, while in 9% of patients colonic agangliosis develops as part of Down syndrome. The violation was first described in the works of the Danish pediatrician Harald Hirschsprung in 1888. The relevance of timely detection of the disease is due to the severity of its complications.

Pathogenesis

The development of Hirschsprung’s disease is caused by a violation of embryogenesis, presumably at 7-12 weeks of gestational age, when Meissner nerve plexuses (in the submucous layer of the colon) and Auerbach (in the muscular membrane of the intestine) form. Due to the premature termination of neuroblast migration or their insufficient differentiation, instead of the typical submucosal and muscular-intestinal plexuses with ganglia, the intestinal neurostructure is represented by separate nerve fibers and glial elements.

The earlier the migration of neuroblasts is completed, the more extended is the agangliotic section of the large intestinal wall. Acetylcholinesterase accumulates in the mucous layer, which causes intestinal spasm, which is a pathognomonic sign of Hirschsprung's anomaly. Due to tonic spasm and the absence of peristalsis, the denervated segment becomes a functional obstacle to the movement of feces. Chronic retention of intestinal contents leads to constant constipation and a significant expansion of the overlying intestine.

Symptoms of Hirschsprung's disease

The rate of development of the clinical picture of the disease depends on the prevalence of bowel damage. In most cases, the first signs occur immediately after the birth of the child, but sometimes the pathology is not very symptomatic, the debut is already observed in adolescence and even adulthood. The main manifestation of colonic agangliosis is chronic constipation and lack of urge to defecate. 50% of patients have bloating and pain in the abdominal cavity, which are associated with delayed stool.

With a prolonged course of the disease, asymmetry of the abdomen and expansion of the skin venous network are formed. In some patients, active intestinal motility can be seen. With Hirschsprung agangliosis, there are often signs of anemia - pallor of the skin and mucous membranes, frequent dizziness, decreased performance. Symptoms of general intoxication of the body may be noted: nausea and vomiting, headaches. Pathology is sometimes combined with congenital heterochromia (unequal color of the iris).

Complications

In the case of Hirschsprung agangliosis, the digestion and absorption of nutrients is disrupted in patients, which, in combination with a decrease in appetite, leads to sharp hypotrophy up to cachexia. Iron deficiency anemia is often found. Children have a lag in growth and physical development. Long stagnation of feces in the intestine provokes dysbiosis, inflammatory changes in the mucous membrane, which can be manifested by paradoxical diarrhea.

The most dangerous complications of Hirschsprung's disease are intestinal obstruction, pressure sores of the wall with fecal stone and perforation of the intestine. The occurrence of toxic megacolon, which is characterized by the expansion of the proximal intestine and excessive growth of pathogenic bacterial flora. This condition often leads to peritonitis and sepsis due to the penetration of intestinal bacteria through a pathologically altered intestinal wall. In this case, there are sharp spilled pains in the abdomen, repeated vomiting, febrile fever.

Diagnostics

Hirschsprung's disease can be suspected if there are characteristic physical signs (palpation of the test "tumor" and the appearance of a "symptom of clay" - clearly identified through the front wall of the abdomen with traces of compression of the colon with fingers). Diagnostic search involves a comprehensive laboratory and instrumental examination of the patient, allowing you to verify the diagnosis. The most informative in the diagnosis of agangliosis are:

  • Large intestine retrograde radiography. Re-filling the colon with x-ray contrast makes it possible to visualize a clear transition between the expanded proximal intestine and the narrowed distal, which has no innervation. Irrigoscopy also determines the absence of colonic haustration.
  • Endoscopic examination of the rectum and sigmoid colon. Sigmoidoscopy and rectosigmoscopy are performed without special preparation of the patient. With Hirschsprung pathology, a spasmodic intestinal wall, the absence of feces are detected. The proximal is the enlarged section of the large intestine, filled with solid feces.
  • Swanson cytomorphological analysis. The histology of biopsies of the rectum and colon is the "gold standard" in the diagnosis of the disease. To obtain reliable results, the biological material is taken along the back wall of the intestine for 6 cm, starting from the dentate line. Additionally, an assessment of the activity of AChE is performed.
  • Gauge test. Hirschsprung agangliosis is characterized by the absence of reflex opening of the rectum sphincter in response to increased pressure. Discoordination of contraction of the sphincters and rectum is noted. Anorectal manometry is an important diagnostic criterion and has a sensitivity of about 85%.

Changes in the clinical analysis of blood (leukocytosis, increased ESR, toxic granularity of neutrophils) occur in the case of a complicated variant of the disease. In a biochemical blood test, hypoalbuminemia, dysproteinemia is observed. If the patient has paradoxical diarrhea, bacteriological examination of feces is carried out to isolate pathogenic pathogens.

Hirschsprung agangliosis, first of all, must be differentiated from idiopathic megacolon. The main diagnostic criterion is the absence of submucosal and intramuscular nerve ganglia in intestinal biopsy specimens. Pay attention to the anamnesis (the onset of the disease in early childhood), data from studies of AChE activity and anorectal manometry. In addition to a proctologist, an infectious disease specialist and a surgeon are invited to consult patients.

Hirschsprung disease treatment

An operation aimed at restoring intestinal patency by removing the denervated area is recommended for patients with a confirmed diagnosis. Conservative methods (correction of metabolic disorders, elimination of constipation with the help of cleansing, hypertonic and siphon enemas) are used at the stage of diagnosis and preoperative preparation. With prolonged conservative therapy, megacolon progresses, the patient's condition worsens, and the risk of postoperative complications increases.

When choosing the volume and technique of surgical intervention take into account the length of the aganglion segment, the degree of pre-stenotic expansion, the age of the patient. During abdominal surgery, a resection of the denervated area and the pathologically modified enlarged part of the intestine is performed, and a colorectal anastomosis is created. Given the selected technique for the surgical treatment of Hirschsprung pathology, two approaches to conducting planned interventions are possible:

  • One-step operation. It is indicated for the compensated form of the disease and the small length of the agangliotic segment. The affected intestine is removed and an anastomosis is immediately formed. The advantage of a one-stage approach is less trauma, however, with an incorrect assessment of the clinical situation, the probability of complications in the postoperative period increases.
  • Two-step operation. Recommended for patients with subcompensated and decompensated variants of the disease, significant changes in the colon above the denervated area, an extended aganglion segment. At the first stage, after a bowel resection, a colostomy is formed, which after a while is sutured with the creation of a large intestine anastomosis during reconstructive intervention.

An emergency or urgent operation is performed in case of acute intestinal obstruction, intestinal perforation, pressure sores of the intestine with fecal stone. Intervention is performed in the scope of resection of the sigmoid colon, left-sided hemicolectomy, coloproctectomy with colostomy or ileostomy. Subsequently, the passage of intestinal contents is restored by surgical methods. Clinical clinical examination of the operated patients is carried out weekly during the month after the operation, quarterly during the year and annually for 3 years.

List of abbreviations

doctor of medical sciences - Doctor of Medical Sciences

Gastrointestinal tract

Ph.D. - Candidate of Medical Sciences

ICD - International Classification of Diseases

RAIR - rectoanal inhibitory reflex

RCT - a randomized clinical trial

TTG - thyroid-stimulating hormone

1.2 Etiology and pathogenesis

At present, Hirschsprung's disease is considered a polyetiological disease.

At 7-12 weeks of pregnancy, there is a violation of the formation of nerve structures in a certain area of ​​the rectum. Significant changes occur in the nerve plexuses of Auerbach (muscle layer) and Meisner (submucosal layer). These changes consist mainly in the absence of ganglia of the muscular-intestinal and submucosal plexuses 1, 2.

In place of the ganglia, only nerve fibers and small cells with nuclei rich in chromatin are determined - glia elements 13, 14.

In some cases, glial cells are not detected, and instead of nodes there are only nerve trunks oriented in one direction. They break up into several branches and do not form typical plexuses. In some cases, there are not only ganglia, but also nerves.

Currently, the main theory explaining the absence of ganglia in the colon is a violation of the migration of neuroblasts from the vagal scallop during embryogenesis, and the earlier the migration stops, the longer the aganglion segment 6, 7, 8.

Studies in molecular genetics indicate a significant role in the pathogenesis of Hirschsprungamutations disease 4 genes: RET (tyrosine kinase receptor), GDNF (glial cell neutrophic factor), ENDRB (endothelin-B receptor gene), EDN3 (endothelin-3) and their determining effect on the process of migration of neuroblasts 3, 4, 5.

In addition, there is a hypothesis according to which agangliosis develops as a result of impaired differentiation of nerve cells that have already reached the intestinal wall. Various factors can influence cell maturation, such as hypoxia, exposure to chemical agents, increased radiation, and viral infection 9, 10.

The combination of genetic disorders with the pathological influence of the external and internal environment determines the nature of the damage not only to the intramural nervous system. According to various authors, the combination of Hirschsprung’s disease with other malformations occurs in 29–32.7% of cases 10, 11, 12.

The accumulation of acetylcholinesterase in the mucous membrane, along with the absence of mediators that provide an inhibitory effect in the intestinal wall, causes a persistent spasm, which serves as a pathogenetic sign of Hirschsprung’s disease 15, 16.

Probably, the aganglionic section of the intestine is not involved in peristaltic activity and is thus a zone of functional obstruction to the passage of intestinal contents. As a result, there is a chronic delay in feces in the overlying part of the intestine, the latter expands over time and a megacolon is formed - the main clinical sign of Hirschsprung's disease.

1.3 Epidemiology

Hirschsprung's disease is a fairly common developmental anomaly. The frequency of occurrence of Hirschsprung’s disease over several decades ranges from 1:30 thousand to 1: 2000 to the total number of newborns 11, 17, 18.

In boys, the disease occurs 5 times more often than in girls 9, 10, 19.

The prevalence of colon agangliosis varies among ethnic groups. This disease occurs in Europe in 1 out of 4,500 newborns, and in Japan - in 1 out of 4,697 children born. Hirschsprung's disease is registered in 1.5 out of 10 thousand people born in the Caucasus region, in 2.1 out of 10 thousand newborns of African Americans and in 2.8 out of 10 thousand children of Asian descent 20, 21.

There is a difference in the frequency of various forms of the disease, depending on the extent of the agangliosis zone. Cases with a short segment are much more common and account for up to 80% of the total. The remaining 20% ​​of cases are in patients whose aganglionic segment extends proximal to the rectum 2, 22, 23.

Hirschsprung's disease is often a familial disease. The risk of this disease in relatives is significantly higher compared to the rest of the population. Of all the reported family cases of agangliosis, 20% are 20, 24.

2.1 Complaints and medical history

  • When interviewing a patient, it is recommended to pay attention to complaints, the duration of the disease, the nature of the stool, etc. ...

Confidence Level C (evidence credibility level - 4)

A comment.Symptoms of Hirschsprung's disease usually occur in early childhood. However, its clinical manifestations may have an erased picture in children and develop in adulthood. The main reason for going to the clinic is constipation, which is noted by all patients. However, in most patients there is a lack of an independent stool. This symptom is always combined with the absence of a urge to defecate. Some patients may have the urge to defecate and have independent stools, however, there remains a feeling of incomplete emptying of the colon. The presence of an independent stool in these patients is due to the preserved propulsive ability of those parts of the colon that are located proximal to the aganglion zone 23, 25.

Bloating is reported in half of the patients. This symptom is noted against the background of a prolonged absence of independent stools and disappears after emptying the colon. Abdominal pains are usually paroxysmal in nature and occur at the height of constipation, which is stopped by the use of cleansing enemas 1, 26, 27.

Nausea and vomiting appear, as a rule, in a decompensated state, accompanied by pain in the abdomen, a prolonged absence of an independent stool. A number of patients may experience weakness and malaise as a manifestation of general intoxication.

In adult patients, the occurrence of enterocolitis, which is so characteristic of children suffering from Hirschsprung's disease, practically does not develop.

2.2 Physical examination

  • Inspection and palpation of the abdomen recommended ...

C recommendation level C (evidence credibility level - 4).

A comment.An objective examination of many patients reveals a developed rib angle. Against the background of bloating, an increase in the size of the colon, asymmetry of the abdomen is noticeable, an increase in its size, with a stretched front abdominal wall and peristalsis visible to the eye. At the same time, with adequately conducted conservative measures, megacolon develops slowly, which allows you to maintain a normal shape of the abdomen 1, 22.

With a compensated state, palpation of the abdomen in patients with Hirschsprung's disease may be uninformative. With subcompensated and decompensated megacolon, the colon is inflated by gases or filled with feces, the most often sigmoid colon. It has the shape of a balloon-shaped cylinder, located, as a rule, in the left half of the abdomen. In case of intestine overflow, finger impressions remain on it. In a number of patients fecal stones can be palpated, which in some cases are displaced in the lumen of the intestine 25, 23.

  • A rectal examination in patients with a supraanal form of the disease is recommended to detect the presence of feces or coprolites in the rectal ampoule 26, 22.

C recommendation level C (evidence credibility level - 4).

A comment.Inspection of the perineum, perianal region is not informative.

2.3 Laboratory diagnostics

There are no specific laboratory manifestations of Hirschsprung's disease.

  • A study of the level of thyroid-stimulating hormone (TSH), calcium and potassium plasma is recommended to exclude the secondary megacolon in endocrinological disorders and electrolyte disorders.

C recommendation level C (evidence credibility level - 4).

2.4 Instrumental diagnostics

X-ray research methods.

These methods make it possible to assess the functional and morphological state of the colon, which significantly affects the choice of further diagnostic and therapeutic tactics 33, 1, 26.

  • Recommended survey radiography of the abdominal cavity without prior preparation allows you to determine the presence of signs of intestinal obstruction, identify fecal stones.
  • Irrigoscopy is recommended to establish the presence or absence of a narrowing zone, its length, as well as the prevalence of megacolons and the condition of the unexpanded parts of the colon. 25, 9, 22.

C recommendation level C (evidence credibility level - 4).

A comment.At the same time, the contractility of the intestinal wall, the severity of the colonic haustration, the usefulness of its emptying and the presence of longitudinal folding of the mucous membrane in the expanded sections are evaluated. With irrigoscopy, the level and degree of filling of the colon are controlled, the projection is selected to best identify the narrowing zone, which usually corresponds to the aganglionic segment. The relief of the mucous membrane is studied after emptying the colon from contrast media.

Since there is an obvious reason for the violation of passage of intestinal contents in Hirschsprung’s disease, the aganglion segment, most patients do not need to study the motor-evacuation function of the colon. 25, 34

Endoscopic research methods.

  • Sigmoidoscopy is recommended, which makes it possible to examine the rectum and distal parts of the sigmoid colon. ...

C recommendation level C (evidence credibility level - 4).

A comment.If Hirschsprung's disease is suspected, this study is carried out without special preparation. In the presence of agangliosis, a pronounced spasm of the wall of the distal colon does not allow the feces to penetrate into the narrowed area, which is a pathognomonic sign of the disease. Proximal to the narrowed area, an expanded part of the intestine is found containing feces. In this section, the smoothness and longitudinal orientation of the folds of the mucous membrane, sometimes its atrophy or hyperemia, 9, 22 are determined.

  • Colonoscopy is recommended as an auxiliary research method for Hirschsprung’s disease, since full preparation of the colon is difficult and the large size of the intestine creates significant difficulties in carrying out the apparatus due to the lack of a sufficient area for fixing the colonoscope.

Confidence Level C (the confidence level of the recommendation is 4)

Physiological research methods.

  • Anorectal manometry for the dianostics of Hirschsprungas disease is recommended. ...

C recommendation level C (evidence credibility level - 4).

A comment.In patients with suspected Hirschsprung's disease, anorectal manometry is an important diagnostic test, in particular, the study of rectoanal inhibitory reflex (reflex relaxation of the internal sphincter in response to increased pressure in the rectum). The absence of a rectoanal inhibitory reflex is a reliable diagnostic criterion for Hirschsprungas disease with a sensitivity of 70–95% 35, 36

2.5 Other diagnostics

Histochemical and morphological diagnostics is based on the detection of acetylcholinesterase in the lamina propria mucosa of the colon. It was found that the accumulation of acetylcholinesterase in the aganglionic zone is much larger than in the normally innervated portion of the colon. This circumstance served to develop a histochemical method for the diagnosis of agangliosis 15, 16. Material for determining the level of acetylcholinesterase is taken from the level of 5, 10 and 15 cm from the edge of the anal canal.

  • Immunohistochemical diagnostics is recommended. ...

C recommendation level C (evidence credibility level - 4).

A comment.In recent years, immunohistochemical diagnostics has been actively used to identify nerve fibers containing nitric oxide (NO). It is a neurotransmitter that transmits impulses that relax the internal sphincter. A specific qualitative reaction demonstrates the absence of nitric oxide in the aganglionic zone. This study is most valuable for determining the diagnosis of Hirschsprung’s disease with an ultrashort aganglionic segment, when there is no characteristic radiological picture, and in the absence of a rectoanal reflex, ganglia are detected in the biopsy of the rectal wall 29, 30, 31.

  • A rectal wall biopsy is recommended. ...

C recommendation level C (evidence credibility level - 4).

A comment.Crucial in the diagnosis of Hirschsprung's disease is a biopsy of the rectal wall. The technique was proposed by O. Swenson (1955) and consists in excising a full-layer fragment of the wall of the rectum at a distance of 3 cm from the dentate line, followed by examination of this site for the presence of intramural ganglia. The need for this invasive procedure arises in the differential diagnosis of idiopathic megacolon and Hirschsprung's disease, when there are contradictions between the data of anorectal manometry, the results of the test for acetylcholinesterase and the radiological picture. The detection of agangliosis of the intramuscular and submucosal nerve plexuses is a reliable confirmation of Hirschsprung's disease. It should be remembered that the zone of physiological hypo- and agangliosis can spread up to 5 cm proximal to the dentate line. In order to avoid a false positive result of the study, it is recommended to perform a biopsy by excising a full-layer flap 1 cm wide along the posterior wall of the rectum from the dentate line with a length of at least 6 cm 15, 32.

Additional diagnostic methods are carried out in order to differentiate with other pathologies, including psychosomatic conditions, which are characterized by the development of constipation syndrome. As a rule, the participation of third-party specialists in the form of a gastroenterologist, psychotherapist is required.

2.6 Diagnostic criteria for Hirschsprung disease in adults

  • history of constipation since childhood,
  • the presence of a zone of relative narrowing in the distal colon with suprastenotic expansion in irrigograms,
  • the absence of a rectoanal inhibitory reflex with anorectal manometry,
  • positive reaction of the rectal mucosa to acetylcholinesterase.

With a combination of these signs, a diagnosis of Hirschsprung's disease is established.

In doubtful cases, in the absence of a characteristic anamnesis, the presence of a fuzzy x-ray picture, a weakened reaction of the internal sphincter to rectal distension, a weakly positive reaction to acetylcholinesterase or contradictions in the results of these tests, it is necessary to conduct a transanal biopsy of the rectum wall according to Svenson in the proposed modification to assess the state of intramural nerve plexus 25, 26, 23.

3.1 Conservative treatment

Conservative treatment is symptomatic (correction of constipation, metabolic disorders, etc.), prolongation of conservative therapy inevitably leads to the progression of megacolons, worsening of the condition and an increased risk of complications. The proliferation of megacolon can lead to the need for more extensive resection of the colon and the deterioration of the functional results of treatment, and the development of complications can be the cause of a multi-stage surgical intervention.

3.2 Surgical treatment

Treatment objective- normalization of the passage of intestinal contents through the colon and its unimpeded evacuation through the anal canal. This goal can be achieved by eliminating the aganglion zone from intestinal transit and restoring the evacuation ability of the higher sections of the colon 1, 37, 18.

The success of surgical treatment of Hirschsprung's disease in adults depends on the following circumstances:

  • radicalization of the removal of the aganglionic zone,
  • resection volume of decompensated colon,
  • adequate preparation for the operation.

3.2.1 Routine surgical treatment.

  • For the surgical treatment of Hirschsprung's disease, various surgical interventions are recommended:
  • Operation Soave,
  • Rebane’s operation
  • swanson operation
  • Duhamel operation.

However, they are mainly used in children, and their implementation in adult patients significantly impairs the functional results of treatment 38, 39, 40.

C recommendation level C (evidence credibility level - 4).

  • As a method of surgical treatment of Hirschsprung’s disease in adults, Duhamel’s surgery is recommended in a modification of the Koloproctology State Scientific Center A.N. Ryzhikh (SSCC) 25, 41, 9.

C recommendation level C (evidence credibility level - 4).

A comment.This surgery has the following objectives:

  • maximum removal of the aganglion zone without excessive trauma to the pelvic organs,
  • elimination of the possibility of damage to the internal sphincter,
  • safety and asepticity of the formation of colorectal anastomosis,
  • prevention of colorectal anastomosis insolvency,
  • prevention of the formation of a blind sac in a cult of the rectum,
  • creating conditions for good function of the anastomosis,
  • reduction in the number of postoperative complications.

3.2.1.1 Operation Duhamel in the modification of the State scientific center of coloproctology. A.N. Red.

Duhamel’s operation in the modification of the SSCC is carried out in two stages.

  • First stage.Resection of the colon and rectum with resection of the aganglionic zone and the formation of a colorectal end-lateral retrorectal anastomosis in excess according to Duhamel.

The task of the intraoperative revision is to determine the proximal border of the aganglionic zone, the degree of change of the sections above the level of the functioning part of the colon. The aganglionic zone in adults is not much different in appearance from a healthy intestine. In some cases, it is possible to visualize a site of apparent narrowing, but it can also be taken as a spasm of the intestinal wall.

The expanded decompensated part of the colon in Hirschsprung's disease has a very characteristic appearance. The degree of expansion can be different both in magnitude and extent, but pronounced wall hypertrophy with the restructuring of the external muscle layer is always noted. This part of the intestine usually has a grayish-white color, the outer muscle layer surrounds the intestinal wall with a dense solid case, which in the form of a rough half-dropped balloon occupies a significant part of the abdominal cavity. There are no gaustres in this section of the intestine, blood vessels are large, with multiple branches. The transition zone from the extended part to the aganglionic zone is defined quite clearly - pronounced tenii and haustra appear, and the diameter of the intestine approaches normal.

Mobilization begins with an enlarged area, while the marginal vessel in the most distal part of the department, which is supposed to be reduced, necessarily intersects. Then mobilization of the aganglionic zone is performed. It is produced as close to the intestinal wall as possible to reduce trauma to the pelvic nerve plexuses.

Mobilization of the reduced sections is carried out by ligation of the main vessels: sigmoid - with the reduction of the sigmoid colon, lower mesenteric - with the reduction of the left departments, lower mesenteric and middle colon vessels - with the reduction of the right half of the colon. The rectum is mobilized circularly to a level of 7–8 cm, and along the back wall to the pelvic floor. At a height of 7-8 cm from the edge of the anal canal, the intestine intersects. The produced intestine is fixed to a special conductor, with its help the posterior wall of the rectum is protruded immediately above the upper edge of the anal canal.

After the anus sabotage, the perineal team dissects the posterior wall of the rectum 1–2 cm above the anorectal line above the conductor. Through this wound, a reduced intestine is drawn into the prepared tunnel on the conductor. Before this, provisional sutures are applied, which then sew the reduced intestine and rectum along the previously outlined line of the anastomosis. Then the conductor is removed, and the excess of the reduced intestine is fixed to the perianal skin. Rectal stump drainage is performed.

  • Second phase. Cutting off excess of the reduced intestine.

The operation is performed under epidural anesthesia. Produce a circular cut-off of the excess of the reduced intestine at the level of previously applied nodal sutures. Then, an anastomosis is formed by stitching the posterior wall of the rectum with the anterior wall of the knotted sutures. The operation to cut off the excess of the reduced intestine and the formation of a delayed colorectal anastomosis are performed 12-15 days after the first stage of the operation.

3.2.1.2 Options for the operation Duhamel in the modification of the State Scientific Center of Coloproctology. A.N. Red.

A number of patients undergo multi-stage planned surgical treatment. It is carried out in two versions - with primary or delayed removal of the aganglionic zone.

1.1.Rectection of the rectum and colon according to the type of Hartmann surgery,

1.2. Reconstructive reduction of the colon with the formation of colorectal-con-lateral-gastrorectal anastomosis according to Duhamel,

1.3. Cutting off the excess of the reduced intestine and the formation of a delayed colorectal anastomosis 12-15 days after surgery.

2.1. Resection of the colon according to the type of Hartmann surgery,

2.2. Resection of the colon with the zone of agangliosis and the formation of colorectal-concse-lateral-gastrorectal anastomosis according to Duhamel,

2.3. Cutting off the excess of the reduced intestine and the formation of a delayed colorectal anastomosis 12-15 days after surgery.

  • Option 2 is recommended for severe patients, when it is not advisable to expand the volume of the resection and remove the rectum. ...

Confidence Level C (The confidence level of the recommendation is 4).

3.3 Treatment of complications.

Severe complications of Hirschsprung's disease requiring urgent surgical intervention include:

    • Acute intestinal obstruction,
    • Bowel perforation,
    • Pressure ulcer of the colon with fecal stone.

Emergency and urgent operations, depending on the severity of the condition of the patients, the severity of complications, can be performed in several ways:

    • Colon resection according to the type of Hartmann's operation (depending on the severity of megacolons, sigmoid colon resection, left resection, left-sided hemicolectomy are performed),
    • Resection of the colon and rectum with aganglionic zone according to the type of Hartmann surgery,
    • Colostomy, ileostomy.

In the future, all patients who underwent emergency and urgent surgery for complications of Hirschsprung’s disease undergo planned surgical treatment according to the above principles.

4. Rehabilitation

  • There are no specific methods for the rehabilitation of patients with Hirschsprung's disease.
  • Postoperative patients are recommended as general surgical patients. ...

Confidence Level C (the confidence level of the recommendation is 4)

  • If an intestinal stoma was formed during surgical treatment, then medical rehabilitation measures are recommended to be sent to restore the natural passage of intestinal contents through the gastrointestinal tract. In this case, the nature of the surgical intervention and the volume of colon resection are determined according to the above principles (see paragraphs 3.2.1.1 - 3.2.1.2). ...

Confidence Level C (the confidence level of the recommendation is 4)

  • All patients who have developed an intestinal stoma during surgical treatment should be consulted and monitored by a rehabilitation specialist for ostomy patients. ...

Atlevel of credibility of recommendation C (the confidence level of the recommendation is 4)

5.1 Dispensary management

Monitoring purpose- assessment of the functional results of treatment, as well as the identification and correction of late postoperative complications.

  • Given the likelihood of a stricture of colorectal anastomosis forming in the early stages after surgery, it is recommended that patients be examined weekly after discharge from the hospital for 1 month.

Confidence Level C (the confidence level of the recommendation is 4)

  • Further recommended for patients contact for follow-up examination 1 time in 3 months. within 1 year.

Confidence Level C (the confidence level of the recommendation is 4)

  • 1 year after surgery, in addition to clinical examination, to determine the functional state of the colon and to exclude relapse of megacolon, an X-ray examination of the gastrointestinal tract is recommended. It should include:
    • Irrigoscopy
    • Passage of barium through the gastrointestinal tract

The level of credibility of recommendation C (the confidence level of recommendation is 4)

  • In addition, if there are signs of impaired function of holding the intestinal contents, it is recommended to conduct a physiological study of ZAPK.

Confidence Level C (the confidence level of the recommendation is 4)

  • In the absence of late postoperative complications requiring surgical or conservative correction, it is recommended that patients be monitored Once a year for 3 years. In the future, patients are removed from the dispensary observation, an appeal to specialists is recommended when intestinal symptoms appear.

Confidence Level C (the confidence level of the recommendation is 4)

Criteria for assessing the quality of care

Evidence confidence level

The level of credibility of recommendations

Event (semantic, substantive, process) quality criteria

Is there any x-ray confirmation of the presence of megacolons?

Has a digital examination of the rectum been performed?

Was there a differential diagnosis with idiopathic megacolon in the case of a routine examination?

Temporary quality criteria

Is a clinical diagnosis formulated within 3 days of receipt?

Was an abdominal x-ray performed in case of intestinal obstruction due to intestinal obstruction or fecal stone within 2 hours of receipt?

Effective Quality Criteria

On the background of treatment, clinical improvement was achieved at the time of discharge from the hospital?

Additional quality criteria

Is the patient satisfied with the treatment results?

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  41. Vorobiev G.I., Zhuchenko A.P., Efremov A.V. Late Complications of Duhamel Postoperative Surgery for Adult Hirschsprung's Disease // Probl. proctology. - 1991. - Vol. 12. - S. 58–62.

Appendix A1. The composition of the working group

Achkasov Sergey Ivanovich - MD, professor. Association of Coloproctologists of Russia.

Aleshin Denis Viktorovich - Ph.D. Association of Coloproctologists of Russia.

Biryukov Oleg M. Ph.D. Association of Coloproctologists of Russia.

Vasiliev Sergey Vasilievich - doctor of medical sciences, professor. Association of Coloproctologists of Russia.

Grigoryev Evgeny Georgievich - MD, professor, corresponding member of RAS. Association of Coloproctologists of Russia.

Zarodnyuk Irina Vladimirovna - MD Association of Coloproctologists of Russia.

Kapuller Leonard Leonidovich - MD, professor. Association of Coloproctologists of Russia.

Kashnikov Vladimir Nikolaevich - candidate of medical sciences Association of Coloproctologists of Russia.

Lakhin Alexander Vladimirovich - Association of Coloproctologists of Russia.

Mainovskaya Olga Aleksandrovna - candidate of medical sciences Association of Coloproctologists of Russia.

Muravyov Alexander Vasiliev - MD, professor. Association of Coloproctologists of Russia.

Pak Vladislav Evgenievich - candidate of medical sciences, associate professor. Association of Coloproctologists of Russia.

Polovinkin Vadim Vladimirovich - MD Association of Coloproctologists of Russia.

Tiberbulatov Vil Mamilovich - MD, professor, corresponding member RAS. Association of Coloproctologists of Russia.

Titov Alexander Yuryevich - MD Association of Coloproctologists of Russia.

Totikov Valery Zelimkhanovich - MD, professor. Association of Coloproctologists of Russia.

Fomenko Oksana Yuryevna - candidate of medical sciences Association of Coloproctologists of Russia.

Frolov Sergey Alekseevich - MD Association of Coloproctologists of Russia.

Cherkasov Mikhail Fedorovich - MD, professor, Association of Coloproctologists of Russia.

Shelygin Yuri Anatolyevich - MD, professor. Association of Coloproctologists of Russia.

Conflict of interest: is absent.

Appendix A2. Clinical Guidelines Development Methodology

Target audience of clinical recommendations:

  1. Coloproctologists.
  2. Gastroenterologists.
  3. Surgeons.
  4. Students of medical universities, residents, graduate students.

In these clinical recommendations, all information is ranked by level of reliability (evidence) depending on the number and quality of studies on this problem.

Table 1. Levels of evidence.

Confidence level

Data type

Meta-analysis of randomized controlled trials (RCTs)

At least one RCT

At least one well-executed controlled trial without randomization

At least one well-executed quasi-experimental study

Well-performed non-experimental studies: comparative, correlation or “case-control”

Expert consensus opinion or clinical experience of recognized authority

Table 2. Levels of credibility of recommendations.

Level of credibility

The basis of the recommendation

It is based on good-quality clinical trials that directly apply to this specific recommendation, including at least one RCT.

Based on good design clinical trial results, but no randomization

Compiled in the absence of good-quality clinical trials directly applicable to this recommendation

Clinical guidelines update procedure

Clinical guidelines are updated every 3 years.

Appendix A3. Related Documents

These clinical recommendations are developed taking into account the following regulatory documents:

  1. Article 76 of the Federal Law of the Russian Federation of November 21, 2011 N 323-ФЗ "On the Basics of Protecting the Health of Citizens in the Russian Federation", in terms of the development and approval by clinical professional non-profit organizations of clinical recommendations (treatment protocols) on the provision of medical care,
  2. Order of April 2, 2010 N 206n "On approval of the procedure for providing medical care to the population with diseases of the colon, anal canal and perineum of the coloproctological profile" of the Ministry of Health and Social Development of the Russian Federation,
  3. Federal Law of the Russian Federation of November 29, 2010 N 326-ФЗ (as amended on July 3, 2016) "On Compulsory Health Insurance in the Russian Federation",
  4. Order of the Ministry of Health of Russia of July 7, 2015 N 422an "On approval of the criteria for assessing the quality of medical care",
  5. Order of the Ministry of Health and Social Development of the Russian Federation of December 17, 2015 No. 1024н “On the classification and criteria used in the implementation of medical and social examination of citizens by federal state institutions of medical and social examination”,
  6. Federal Law dated 17.07.1990 178-ФЗ (as amended by Federal Laws dated 08.12.2010 No. 345 ФЗ, dated 345-ФЗ, dated July 1, 2011 No. 169 ФЗ, dated July 28, 2012 No. 133-ФЗ, dated December 25, 2012 No. 258 -FZ, dated 05.07.2013 No. 99-ФЗ, dated 07.05.2013 No. 104-ФЗ, dated 02.07.2013 No. 185-ФЗ, dated 11.25.2013 No. 317-ФЗ) “On state social assistance”.

Appendix B. Patient Information

Hirschsprung's disease (congenital agangliosis) is an abnormality in the development of the colon, characterized by the absence of ganglia of the submucosal and intramuscular nerve plexuses in a specific area of ​​the intestinal wall. The ganglion is a form of organization of the own nervous apparatus of all internal organs. It is an accumulation of bodies of nerve cells - neurons surrounded by auxiliary cells - glia. Ganglia belong to the peripheral nervous system and are involved in the regulation of the activity of internal organs. The pathogenesis of agangliosis is associated with impaired migration of neuroblasts from the vagal nerve scallop during embryogenesis. Since the rectum is last populated by neuroblasts, the agangliosis zone almost always begins in the most distal part of the rectum. The earlier migration stops, the longer the aganglionic segment.

Probably, the aganglionic section of the intestine is not involved in peristaltic activity and is thus a zone of functional obstruction to the passage of intestinal contents. As a result, there is a chronic delay in feces in the overlying part of the intestine, the latter expands over time and a megacolon is formed - the main clinical sign of Hirschsprung's disease.

Hirschsprung's disease is a relatively rare disease, its frequency is from 1: 30,000 to 1: 2000 to the total number of newborns. Boys get sick 4-5 times more often than girls. In most cases, a vivid clinical picture in the form of a lack of stool, abdominal distention appears literally from birth. Because of this, most patients undergo surgical treatment in early childhood. However, in a small number of patients, the symptoms of the disease can be significantly less pronounced, and only decompensation of bowel function or the development of complications forces them to consult a doctor in an adult state.

The main clinical manifestations of Hirschsprung's disease are persistent constipation, usually from early childhood and constant bloating, independent of bowel movement. Constipation gradually progresses, fecal stones form in the expanded parts of the colon, which can lead to the development of intestinal obstruction or even perforation of the intestine due to pressure sores by the stone, and, accordingly, the need for emergency surgery.

Treatment of Hirschsprung's disease is only surgical. Moreover, the earlier the operation is performed, the better its functional result. Delaying surgery leads to the progression of megacolons and an increased risk of complications. Surgery can still not be avoided, but the proliferation of megacolon will lead to the need for more extensive colon resection. And the development of complications will be the cause of a multi-stage treatment with a much higher health risk and the likelihood of stoma formation, more often temporary, but sometimes constant. Timely performed surgery allows patients to lead a full life without any restrictions. Women after surgery have a high chance of conception in a natural way and a full pregnancy.

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