Hirschsprung's disease - treatment and reviews after surgery. Symptoms, causes in children and adults

Sometimes the disease can also occur in adults. But most often children suffer from it. It is a congenital disease that is inherited. It is diagnosed mainly in boys. It manifests itself immediately after birth. Only surgical intervention is effective in treatment.

Characteristics of pathology

This disease was described in 1887 by the Danish pediatrician Harold Hirschsprung, after whom this ailment was later named. The disease was originally called congenital gigantism of the colon. Pathology has another name. It is called congenital agangliosis. What is Hirschsprung's disease in children?

Symptoms (photo shows pathology) are dictated by individual characteristics, in which nerve ganglia do not form in the walls of the large intestine. Namely, they control the muscles that push the processed food through the intestine. The absence of nerve ganglia results in muscle tissue not functioning. Consequently, food does not move through the colon. This pathology is called Hirschsprung's disease. Symptoms in children include constipation, infection, and inflammation.

The incidence of Hirschsprung's disease is 1 in 5000. That is, only one in five thousand newborns suffers from this disease. More often, the disease, as mentioned above, is diagnosed in boys.

Causes of pathology

Although this disease was described as early as 1887, it took many years to identify the causes and development of this disease.

Doctors cite several sources provoking the development of such an unpleasant pathology as Hirschsprung's disease in children.

Causes of the disease:

1. As a result of the conducted studies, it was found that the formation of pathology occurs even during intrauterine development. Nerve clusters that will perform the necessary functions in digestion are formed in the fetus from 5 to 12 weeks of pregnancy. In rare cases, the development of nerve cells in the infant's digestive system is incomplete. They are not formed in the large intestine. The causes of this pathology have not yet been clarified. It is believed that this is how mutations in DNA manifest themselves.
2. Heredity is also noted in the occurrence of this disease. If there are cases of this disease in the family, then the probability that a sick child will be born is quite high. Especially if the fetus is male, since boys suffer from this disease 4-5 times more often than girls.
3. In areas where there is increased radiation, children are more often born with Hirschsprung's disease.
4. The factor affecting the onset of this disease is
5. Pathology can develop as a result of endocrine disorders in the mother.

Disease classification

There are several forms of such a pathology as Hirschsprung's disease (in children). Symptoms in a child may indicate a type of illness.

The following forms of Hirschsprung's disease are distinguished:

1. Compensated - constipation occurs at an early age. Cope with them with cleansing enemas for a long time.
2. Subcompensated - enemas do not have a relief effect. As a result of deterioration, weight loss occurs. The patient feels heaviness and pain in the abdomen. With this form of the disease, the appearance of shortness of breath, anemia is observed. Metabolism is undergoing marked changes.
3. Decompensated - the intestines cannot be cleansed with cleansing enemas and laxatives. After these measures, the feeling of heaviness in the lower abdomen and bloating do not stop. With a change in diet or strong physical exertion, a sharp one can develop. In child patients, this form of the disease is established with a subtotal and complete lesion.
4. Acute - intestinal obstruction in newborns.

Symptoms of pathology

The disease can manifest itself in the first days of a child's life. For example, if a newborn's intestines are not emptied during the first day of life, then it is necessary to examine the baby to identify the causes and establish a diagnosis. Perhaps this is Hirschsprung's disease.

Symptoms in children to look out for are as follows. The child refuses to eat. He has constipation. The intestines are not emptied. The stomach swells up. Hoarse breathing is observed. These are indicators that the baby has Hirschsprung's disease. Children usually develop symptoms within the first month of life.

However, the disease can make itself felt much later. Therefore, you should carefully monitor the health of the crumbs. Seek medical attention immediately if you observe signs that resemble Hirschsprung's disease in a child.

Symptoms of pathology that can be observed in infants up to a year:

• constipation;
• lag in weight gain;
• bloating;
• vomiting;
• diarrhea.

The possibility of the onset of the disease manifests itself at a later age.

The disease is accompanied by the following symptoms:

• persistent constipation;
• feces come out in ribbons;
• the intestines are never completely emptied.

What else to look for?

The main symptom of colon pathology is persistent constipation. When breastfeeding, this symptom may not appear. Painful signs appear only at the moment when complementary foods are introduced into the diet of the crumbs. The use of an enema facilitates the condition. But the beneficial effect is observed only at first. Then the use of the enema ceases to give the desired result.

Changes in the size and shape of the abdomen, a low inverted navel are also indicators that are worth paying attention to. With overflow, the large intestine shifts and the tummy takes on an asymmetric irregular shape.

The vomiting that occurs with this disease helps the body get rid of the feces that poison it.

Hirschsprung's disease can also be detected in adulthood. Such patients, as a rule, suffer from constipation from childhood. They need medication to help them empty their bowels. They complain of constant pain in the abdomen, often with flatulence.

Diagnosis of pathology

It is important to identify the disease in a timely manner.

Diagnosis of Hirschsprung's disease in children includes the following methods:

1. Rectal examination. Reveals an empty ampoule in the rectum. There is an increased activity of the sphincter.
2. Sigmoidoscopy. Detection of obstructions in the rigid parts of the rectum, absence or small amount of feces.
3. X-ray. Reveals tumors and enlargements of the colon loops.
4. Irrigography. The large intestine loops are enlarged to 10-15 cm in diameter. They spread to the entire abdominal cavity.
5. Barium suspension passage. The contrast agent passes through the gastrointestinal tract and is retained in the colon. It does not come out of there for a long time. Sometimes it is delayed up to 5 days.
6. Ultrasound of the intestinal area.
7. Anorectal manometry. The pressure in the intestine is measured.
8. Colonoscopy. The data shown by the x-ray are confirmed or refuted.
9. Swanson wall biopsy. The presence of nerve ganglia in the large intestine is determined by extracting a fragment of the colon wall.
10. Histochemistry. Establishes the activity of the tissue acetylcholinesterase enzyme.

Conservative treatment

You should not rely on such therapy. Treatment of Hirschsprung's disease in children is carried out in most cases exclusively by surgery. Conservative therapy mainly serves as a preparation for further surgical intervention.

Preparatory treatment includes:

1. A certain diet, diet. Vegetables, fruits, dairy products, food that does not cause gas formation are recommended for consumption.
2. Massage, physiotherapy, gymnastics. They stimulate intestinal peristalsis.
3. Cleaning enemas.
4. Intravenous administration of protein medicines and electrolyte solutions.
5. Vitamins.

Surgery

It is this that allows the patient, after rehabilitation, to get rid of Hirschsprung's disease forever.

The most suitable age for a child for the operation is 2-3 years. Prepare the patient for surgery at home. For several weeks, it is necessary to follow a diet, empty the intestines with enemas. Special nutrition is necessarily recommended by the attending physician, who takes into account the age and all the characteristics of the child's body, as well as the stage of development of such an unpleasant ailment as Hirschsprung's disease in children.

After the operation, the baby should be followed up by a doctor for 2 years. During this time, the doctor makes an individual diet for the child. Parents should be sure to watch the baby's stool. It is recommended to put a cleansing enema on the baby every day, at the same time. This is necessary for the development of a reflex to empty the intestines.

Conclusion

Hirschsprung's disease is dangerous. It may not appear immediately. In this case, the child suffers from abdominal pain, nausea, vomiting for a long time. Parents need to monitor the regularity of the child's bowel movements and consult a doctor for the slightest violations.

Hirschsprung's disease is a congenital anomaly of the colon. The main cause of Hirschsprung's disease is a genetically determined disorder of the nerve plexuses - the nerves and tissues are insufficiently supplied with nerves, as a result of which their connection with the central nervous system is disrupted. Hirschsprung's disease in male children (newborns) develops several times more often than in female individuals (the onset of symptoms occurs a week after birth). The development of pathology in adolescence and more adulthood is acceptable, which is accompanied by a sharp jump in the development of the disease, pronounced pathogenic symptoms.

general characteristics

The disease code in ICD-10 is Q43.1. Hirschsprung's disease is a congenital anomaly of the colon. The main cause of Hirschsprung's disease is a genetically determined disorder of the nerve plexuses - the tissues are insufficiently supplied with nerves, as a result of which their connection with the central nervous system is disrupted.

Experts note that males suffer from this pathology 4 times more often than females. In 90% of cases, newborns receive a similar diagnosis. Hirschsprugna's disease is more common in babies with genetic chromosomal changes (Down syndrome). Characterized by an accompanying lesion of the nervous / genitourinary / cardiovascular systems / organs of the gastrointestinal tract.

Forms of the disease

Schemes of the main anatomical forms of Hirschsprung's disease: a - rectal; b - rectosigmoidal; c - segmental; g - gram - subtotal; d - total.

Forms of Hirschsprung's disease depending on the location of the colon lesion:

• Rectal. Partial lesion of the rectum occurs. There is no supply of nerve connections to individual parts of the intestine.
• Rectosigmoidal. The most common and common form of Hirschsprung's disease. The rectum and the lower part of the sigmoid colon are affected.
• Subtotal. One specific part of the organ is affected.
• Total. Total intestinal damage occurs. The complete supply of the organ with nerve connections stops.

Stages

Before starting the main therapy (operation), an accurate determination of the form, stage and symptoms of the disease is required:

• Compensated. Main symptom: The patient is diagnosed with persistent constipation. Normal bowel movements are possible only after manipulating a cleansing enema.
• Subcompensated. The main symptoms: a gradual decrease in the effectiveness of an enema, a deterioration in the general condition of the patient (regardless of age), a sharp decrease in body weight, a persistent feeling of pain in the abdominal cavity, intoxication, anemia (anemia).
• Decompensated. The main symptoms: the complete absence of the effect of the enema, the manifestation of a pathological reaction of the body in response to manipulations with the enema (and other methods of cleansing). The most typical deterioration in the general condition of the body after intense physical exertion, changes in diet.

Causes of Hirschsprung's disease

During pregnancy, from the 5th to the 12th week, nerve clusters are formed, which will later be attached to the internal organs of the digestive system. The formation of these clusters starts from the oral cavity and ends in the anal area.

Experts do not give an unambiguous answer regarding the failures of such a formation. Areas where failures occur are left without nerve connections (the quantitative value of such areas may vary). It is from the number of "empty" areas that the degree of damage and the form of pathology depend.

One of the most likely causes is a mutation in the gene structure of DNA. In this way, the carrier of the pathology can pass this mutation on to his heirs. It should be noted that the form into which a gene mutates can be varied.

Symptoms

The symptoms of this pathology most often appear a week after birth. The occurrence of pathogenic symptoms at a later age is acceptable - it will be more pronounced:

• Persistent constipation. Bowel emptying can be achieved in the only way - by manipulating with an enema. After its application, the release of solid feces is observed.
• Muffled physiological urge to defecate (may be completely absent).
• Diarrhea.
• Pain and discomfort in the abdomen.
• Bloating, increased gas formation.
• Abdominal enlargement to abnormal size.
• Malfunction of the digestive system, violation of the usual functionality of metabolism.
• Anemia (anemia).
• Accession of additional acute infections.
• Sudden changes in temperature that are problematic to normalize.
• Nausea, vomiting.
• The most acute problem for a child who has been diagnosed with Hirschsprung's disease is a delay in growth and development, which leads to a whole list of pathogenic consequences.

In adults

• Persistent constipation.
• Lack of urge to defecate.
• Flatulence, increased gas production.
• Intoxication.
• Irregular color of the iris.

In children

• No waste of original feces.
• Vomiting / nausea.
• Constipation / diarrhea.
• Abnormal enlargement of the abdominal cavity.
• Abdominal pain.

Diagnostics

Timely detection of pathology will speed up the treatment process.

Diagnosis of Hirschsprung's disease is made on the basis of complaints from the patient (or his relatives). Timely detection of pathology will speed up the treatment process and prevent complete damage to the internal organ:

• Palpation. Primary diagnostic measure. Determination of the approximate size and location of internal organs.
• Ultrasonography. With the help of ultrasound, the affected areas of the organ are more thoroughly recognized.
• X-ray. The x-ray shows dilated areas of the intestine and zones of accumulation of feces. This method is not effective for newborns.
• Biopsy. By analyzing a fragment of the intestine, the number of nerve connections in it is determined. Thanks to the biopsy, you can most effectively determine the current situation and determine further therapy.
• Colonoscopy. Using a special medical device, an endoscope, will help examine the hard-to-reach walls of an internal organ.

Treatment

Treatment of Hirschsprung's disease is carried out in several stages:

• thorough diagnostics, on the basis of which the treatment is formed;
• preparing the patient for further therapeutic actions;
• surgical intervention, during which damaged tissues of an internal organ are removed;
• rehabilitation, taking restorative medications.

Surgery should be supplemented with medication for greater efficiency and effectiveness. Newborns are an exception. Before proceeding with surgery, a number of conservative actions are carried out:

• elimination of obstruction with enemas (special sodium solutions are used);
• the use of drugs that stimulate the growth of a favorable internal microflora;
• selection of a special diet (intravenous administration of nutrients is allowed);
• consumption of vitamin complexes and biologically active components;
• performing medical massage of the abdominal cavity.

A favorable outcome depends not only on the staff of the clinic in which the therapy is carried out, but also on the carriers of the pathology - on their timely access to medical help and compliance with medical prescriptions.

Before treatment with alternative methods - consult your doctor.

The carrier of pathology (at a conscious age) has the right to refuse surgical intervention. In this case, he will have to carry out manipulations with a cleansing sodium enema for the rest of his life.

It is recommended not to abuse traditional methods of treatment in order to avoid aggravating the current situation. Treatment with folk remedies may include taking substances dangerous for the current state. In addition, some folk remedies have a negative effect on the stomach and cause stagnation of feces.

Conservative treatment

Is in addition to the main therapeutic course:

• Adherence to the norms of proper nutrition.
• Consuming large amounts of water.
• Stimulation by therapeutic massage, gymnastics, physiotherapy exercises.
• Cleansing sodium enemas.
• Intravenous administration of protein preparations.
• Taking vitamin complexes and biologically active drugs.

Hirschsprung's disease is an intrauterine disease characterized by an insufficient number or complete absence of ganglia in the large intestine, which is called agangliosis. The main factor in the development of pathology is the inheritance of a mutant gene. The pathogenesis lies in the fact that, due to the influence of unclear factors, the process of formation of the organs of the digestive system is disrupted.

A mild course of the disease is not expressed by any signs and is diagnosed in adults quite by accident, but with a severe course of the disease, the diagnosis is established in the first week of a baby's life. The basis of the clinical picture is the absence of independent stool and the urge to defecate.

Hirschsprung's disease in children is diagnosed using a wide range of instrumental examinations. Laboratory tests and activities performed by a gastroenterologist are of an auxiliary nature.

Treatment of the disease in children or adults consists only in the implementation of a surgical intervention that involves excision of the damaged part of the large intestine.

According to the international classification of diseases, pathology is given a separate meaning. Hirschsprung's disease has an ICD-10 code Q43.1.

Etiology

Congenital malformation of the colon, which violates the regulatory function of the organ or complete damage, is diagnosed in newborns in 90% of cases, in the rest, the pathology has an asymptomatic course and is detected quite by accident at an older age.

The main reason for the formation of Hirschsprung's disease is a violation of the nerve plexuses of the large intestine, which develops from 5 to 12 weeks of intrauterine development of the fetus.

Sources of the disease:

• genetic predisposition;
• inheritance of a mutant gene.

The risks of the formation of pathology in a family where one child already suffers from a similar deviation is significantly increased. It should be noted that males suffer more from the disease: in boys, the disease is diagnosed about 5 times more often than in girls.

Very often, the disease acts as part of the clinical picture of other diseases, for example, Down's syndrome, pathologies of the cardiovascular, digestive and genitourinary systems.

Classification

Depending on where the pathological focus is located, such forms of Hirschsprung's disease are distinguished in newborns:

1. Rectal or rectal. The rectum is involved in the process. The disorder can occur in two variants - with agangliosis of the perineal region or with damage to that part of the organ located at the level of the sacrum.
2. Rectosigmoid. In addition to the rectum, part of the sigmoid is also affected. This type of disease occurs most often.
3. Subtotal. It is characterized by an abnormality in the development of one half of the large intestine. There are several types - with the involvement of the colon, with the spread of the pathological process to the right half of the organ.
4. Total. Differs in insufficiency or complete absence of ganglia throughout the large intestine.

Specialists from the field of gastroenterology distinguish several degrees of severity of the course of Hirschsprung's disease in children:

• compensated - no other clinical manifestations are observed, except, and the general condition of the child does not change;
• subcompensated - most often develops with a total or subtotal course of pathology, in the symptomatic picture, in addition to the absence of independent discharge of feces, anemia and a progressive decrease in body weight are observed, and in order to empty the intestines, it is often necessary to turn to enemas;
• decompensated - the most severe form, which is characterized by a significant deterioration in the condition and the development of complications, in particular, intestinal obstruction and dystrophy.

Symptoms

More often, specific clinical signs appear within a week after the birth of a child, but extremely rarely (only with a mild course), the disease practically does not manifest itself in any way and becomes a diagnostic surprise in adults.

Symptoms of Hirschsprung's disease in children:

• an increase in the circumference of the abdominal cavity, which is called "frog belly";
• increased gas formation;
• lack of discharge of meconium (feces of a child after birth, leaving in the first hours of life) - is observed only with a severe course of pathology;
• long-term constipation - self-emptying of the intestines is not observed for several weeks; to alleviate the condition, parents resort to gastric lavage;
• lagging behind peers in growth;
• loss of body weight;
• refusal of breast or mixture;
• the release of feces, which outwardly resemble a ribbon and have a fetid odor;
• deformation of the chest;
• anemia.

The development of the syndrome in adults is indicated by:

• lack of urge to empty the bowels from infancy - the act of defecation is carried out only with the help of cleansing enemas;
• diarrhea - loose stools rarely seep through;
• periodic increase in the volume of the anterior abdominal wall;
• pain, localization of which is in the abdomen and in the area of \u200b\u200bthe large intestine;
• signs of intoxication - poisoning of the body occurs due to the accumulation of feces and toxic substances excreted by the feces;
• feeling of incomplete bowel movement;
• attacks and;
• sudden changes in temperature indicators;
• uneven color of the iris of the organs of vision - expressed against the background of a lack or excess of melanin;

The less ganglia in the colon are absent, the later signs of pathology will appear.

Diagnostics

With Hirschsprung's disease, a rather specific symptomatology appears, characteristic of only a small number of gastroenterological diseases, therefore, there are usually no problems with the establishment of the correct diagnosis.

The first step in diagnosis involves the work of a doctor with a patient:

• studying the history of the disease not only of the patient, but also of his relatives - to confirm the hereditary nature of the disease;
• collection and analysis of a life history;
• detailed physical examination, consisting in palpation and abdominal percussion;
• digital examination of the rectum;
• questioning the patient or his parents - to establish the first time of onset of symptoms and their intensity, which will indicate the stage of the pathology.

Instrumental diagnosis of Hirschsprung's disease includes the following procedures:

• intestinal fluoroscopy using a contrast agent;
• anorectal manometry;
• colonoscopy;
• sigmoidoscopy;
• ultrasonography of the peritoneal organs;
• biopsy.

Laboratory research:

• general and biochemical blood tests;
• coprogram;
• histological examination of biopsy.

To differentiate agangliosis of the large intestine follows from, which has almost the same symptoms.

In adults, Hirschsprung's disease is practically not diagnosed, since the diagnosis is made at an early age.

Treatment

The only way to get rid of the problem is to perform a surgical intervention, which is performed in several ways (laparoscopy or laparotomy).

Regardless of the age category, the purpose of the operation for Hirschsprung's disease:

• excision of the affected area of \u200b\u200bthe colon;
• connecting a healthy intestine with the terminal rectum;
• removal of feces into a special container, which the patient should always carry with him.

After the main therapy, reconstructive medical intervention is necessary to apply and close the colostomy.

Regardless of what form of Hirschsprung's disease was diagnosed, at the stage of postoperative recovery, patients are prescribed:

• adherence to a sparing diet - the menu must be enriched with fiber without fail;
• siphon enemas with saline;
• taking probiotics and vitamin complexes, medicines to relieve clinical signs (fever, vomiting, diarrhea and bloating);
• therapeutic massage of the abdomen;
• intravenous administration of protein preparations;
• performing exercises of medical gymnastics.

Using traditional medicine will not give a positive result, but can only aggravate the problem.

Possible complications

When the symptoms are ignored, and the treatment of Hirschsprung's disease is completely absent, a high probability of developing such complications is not excluded:

• fecal intoxication;
• anemia;
• the formation of fecal stones;

If an operation was performed to treat Hirschsprung's disease, sometimes the following consequences may occur:

• secondary infection;
• disorder of the act of defecation;
• divergence of seams;
• inflammatory lesion of the lungs;
• pyelonephritis;

Prevention and prognosis

Hirschsprung's disease in adults and children is congenital, therefore there are no specific preventive measures.

Among the non-specific measures to prevent the appearance of pathology, one can single out:

• maintaining an active and healthy lifestyle;
• proper and balanced nutrition, necessarily enriched with fiber;
• ingestion of at least 2 liters of fluid per day;
• avoiding physical and emotional stress;
• keeping body weight within normal limits;
• regular full preventive examination in a medical institution.

Symptoms and treatment dictate the outcome of the pathology. Early diagnosis and timely treatment make it possible to achieve a favorable prognosis, avoid the development of complications and improve the quality of life of patients.

Even the slightest violation of therapeutic and prophylactic recommendations can lead to negative consequences that can be life-threatening. The earlier the disease is detected, the more favorable the prognosis in the end.

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Bowel disease, named after the pediatrician G. Hirschsprung, who described it, is congenital in nature, that is, it is a primary pathology. It occurs in 90% of cases among children under one month old. Boys are diagnosed more often. Often combined (20%) with other diseases of the cardiovascular, genitourinary and nervous systems. In 30% of cases, it is associated with chromosomal abnormalities (Down syndrome).

The disease is a congenital pathology

In this article, you will learn:

Description of the disease

Hirschsprung's disease is an abnormal formation of nerve nodes in the large intestine, their absence or contraction in a certain part of the organ or throughout (bowel defect). An alternative name is intestinal agangliosis.

Focusing on the localization of the problem, there are several types: rectal, rectosigmoidal, segmental, subtotal, total. Ganglia in the intestine are nerve nodes (plexuses) in the tissues of muscles and epithelium responsible for organ peristalsis and the passage of digested food. Agangliosis is a hereditary disease, that is, it lies in the DNA (abnormal locus of chromosome 10).

The reasons

The causes of Hirschsprung's disease lie in negative factors affecting the fetus in the first trimester of pregnancy (the nervous system is formed from 5 to 12 weeks). As a result, the distal intestines develop incorrectly.

Most often, the disease is diagnosed in newborns.

The process proceeds from top to bottom (from the mouth to the anus). Sometimes development stops, which is manifested by the partial or complete absence of ganglia in one or another part of the large intestine. Several courses of the disease are possible, differing in symptoms, on which the treatment of Hirschsprung's disease in adults depends:

• Typical. Characterized by the rapid development of constipation and intestinal obstruction, the absence of stool.
• Prolonged release. It means the gradual development of the disease, constipation is eliminated with drugs.
• Latent. The first signs appear after 14 years - constipation, then obstruction develops, enemas help.

Experts associate the heredity of Hirschsprung's disease in children with endocrine, mental or neurological abnormalities in parents and the presence of the pathology itself.

The question of the causes of the anomaly is not fully understood. The exact factors influencing the change in DNA have not been identified. But it is precisely determined that the risk of having a baby with bowel defect is higher in families with diagnosed agangliosis.

Many factors affect the development of the fetus during pregnancy.

Disease stages

The anatomical classification of the stages of pathology is somewhat different in childhood and adulthood. In adults, the following stages of pathology are distinguished:

• Nadanalny. Non-innervation is concentrated in the lower ampullar region.
• Rectal. The spread of pathology throughout the rectum.
• In the rectosigmoid form, Hirschsprung's disease spreads to the sigmoid colon.
• Subtotal. The inclusion of the colon.
• Total. Agangliosis of the entire colon.

Stages of pathology in childhood: rectal, rectosigmoid, segmental, subtotal, total.

The classification of Hirschsprung's disease by degree (megacolon) includes such varieties as megarectum (significant expansion), megasigma (expansion and elongation), left-sided (expansion of the sigmoid and descending colon), subtotal form of Hirschsprung's disease (expansion of the rim to the right bend), total (expansion the entire colon), megaileum (expansion and lengthening of the colon).

In the later stages, self-emptying is impossible.

Based on the specifics of megacolon, three types of disease are distinguished (according to the nature of the course): compensated (rare stool, every 3-7 days, but independent or with the help of drugs and enemas), subcompensated (constipation for more than a week, solved only by an enema), decompensated (absence the urge to defecate, the impossibility of emptying even with an enema, is solved surgically).

Rejection symptoms

Symptoms of mild Hirschsprung disease can appear in adults at a fairly late age. The nadanal form with a short deformed area is called "adult disease".

The main symptom in adults is constipation from childhood without the urge to defecate. As toxins accumulate, bloating and cramping pain, general weakness, fever. More often, however, symptoms occur immediately after delivery. In children up to a month, there is a lack of primary feces (within a day from birth), vomiting, flatulence, constipation or diarrhea.

Anemia is one of the symptoms of Grishpung disease

Symptoms and treatment of Hirschsprung's disease in children depend on the stage of the pathology and the age of the child. In the early and infantile period - a lag in the general development of the child (lack of nutrients), chronic prolonged constipation, an increase in the abdomen (frog belly).

Later, signs of anemia, blood streaks in the feces, inflammation of the entire intestine, intoxication (vomiting, fever, diarrhea), deformation of the chest and fecal stones join.

Frog belly is rare in adults, as with the gradual development of the disease and periodic cleansing, abnormal stretching does not occur. If it does, it looks asymmetrical (more on the left). Peristalsis is determined by the eye, the colon (often sigmoid) intestine full of waste and accumulations of feces is determined by the fingers.

By watching this video broadcast, you will learn more about the signs of Hirschsprung's disease:

Diagnosis of the disease

Diagnosis of Hirschsprung's disease involves a combination of instrumental and functional studies, examination and collection of anamnesis:

• Anamnesis allows you to find out the nature of the course of the disease, symptoms, features of the patient's living conditions, the presence of pathology in one of the relatives, past diseases.
• Palpation is not effective at all stages, but it can help determine fecal congestion.
• X-ray for Hirschsprung's disease is the first of the instrumental procedures. Several varieties are used. With their help, the work and condition of the intestines are assessed.
• A classic plain x-ray can detect fecal lumps and blockages. An alternative is ultrasound.
• Contrast X-ray will show bowel deformities (narrowing and expansion, duration), check contractility, assess the condition of the mucous membrane in the affected areas.
• Endoscopic research methods include sigmoidoscopy and colonoscopy. The first procedure allows you to assess the state of the sigmoid colon, the second is an auxiliary one with a significant increase in the organ.
• Anorectal manometry will help to check the rectoanal reflex and the work of the sphincters. The procedure is based on test stimulation of nerve endings to detect intramural nerve transmission.
• Histochemical analysis. Study of material from 5.10 or 15 cm from the anal canal. The level of acetylcholinesterase is analyzed. It is higher in the affected area.
• Immunohistochemical diagnostics is used for very short abnormal areas and other procedures are ineffective. Diagnostics reveals nitric oxide in nerve cells. It is not observed in the anomalous zone.
• Biopsy of rectal tissue. Identifies weakened ganglia or their absence.

Colonoscopy is one of the most informative methods for examining the intestines

Treatment

Operation for Hirschsprung's disease is the only method of treatment known to modern medicine. It is prescribed for both children and adults. The purpose of the operation is to eliminate the obstruction of patency and the exit of feces. For this, the affected area of \u200b\u200bthe intestine is completely excised.

Surgical treatment of Hirschsprung's disease in adults requires mandatory training. The effect of the procedure depends on the amount of manipulations done.

There are several types of operations. For adults, only one is used - the Duhamel technique (a variation of the SSC). The advantages of the technique:

• safety and sterility;
• maximum possible removal of the atrophied area;
• maintaining the work of the posterior sphincter;
• stage-by-stage execution of the operation by several surgeons.

Separately, we should consider how to treat Hirschsprung's disease in children with the help of operations: the Swanson technique, Soave, other Duhamel modifications (including the classical one). The recommended age for surgery is a year and a half. In the compensatory form - 2-4 years.

The operation is carried out in several stages

The stages of the technique are identical: resection (removal of the aganglionic area), colostomy (removal of a healthy stump outside), rehabilitation (the patient's habituation to the new work of the intestine), reconstruction (connection of the remainder of the large intestine and the intestinal stump) and suturing of the excretory incision.

In some cases, the colostomy period is extended. After the operation, temporary stool disturbances are noted. Therapeutic exercises, massage, diet, intravenous nutrition, enemas, and taking vitamins will help to prevent the development of complications of the disease or its transition to a new stage. The same methods apply to the preparatory stage before the operation and the recovery after it.

Complications

The general age and frequent complications of Hirschsprung's syndrome include intestinal obstruction, inflammation, ulcers and perforating formations in the enlarged sections, bleeding.

According to the author, Hirschsprung's disease is a serious congenital disease described for the first time in 1888 by a pediatrician from Denmark. Other names are agangliosis or HSCR. The anomaly consists in the underdevelopment of a 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 is 1 case per 5 thousand newborn babies. It has been found that boys are 4 times more prone to anomalies than girls. In 9% of patients, the pathology is combined with Down's syndrome. It is usually detected in children under 10 years of age; very rarely, Hirschsprung's disease is diagnosed in adults.

What bowel disorders are possible with the disease?

Agangliosis most often affects the rectum and the adjacent sections of the sigmoid. A rare occurrence is the spread of pathology to the entire large intestine. During histological examination, nerve nodes (ganglia) in the submucosa and muscle layer (Auerbach and Meissner plexuses) are not found in the intestinal wall.

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 heavier and brighter the clinical course of the disease.

Pictured is an adult with Hirschsprung's disease before and after surgery

Development reasons

Clusters of nerve cells form in the fetus at 5–12 weeks of gestation. These are the future ganglia, which will become part of the oral cavity and the muscular intestinal wall 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 areas. Modern researches consider the mutation of responsible genes to be the culprit of the 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% they are part of various hereditary syndromes, 12% are associated with chromosomal abnormalities. The type of inheritance has not yet been established.

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

Of the chromosomal abnormalities associated with Hirschsprung's disease, 90% are due to trisomy or Down syndrome. An explanation of this association has not yet been received.

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

Classification

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

• Rectal (includes ampullary, nadampular, perineal) - agangliosis is found in 25% of patients in the rectum.
• Rectosigmoidal - the most frequent localization, 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 rectosigmoidal zone.
• Subtotal - 3% of all patients have, it spreads only to the left half of the large intestine or also covers the right side.
• Total - rarely detected, 0.5% in frequency, causes agangliosis of the entire colon, transition to the small intestine is possible.

Diagram of the main anatomical forms of Hirschsprung's disease

Symptoms and course

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

• in the 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 foods to breastfeeding;
• late - like a rickety chest, anemia, delay in weight gain, fecal stones, signs of intoxication, developmental delay.

To achieve a bowel movement, the child has to give enemas. The feces are hard. The urge to defecate decreases to a complete absence. Patients may:

• 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's disease in adults include:

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

Sometimes uneven color of the iris of the eyes is revealed.

Stages of the disease

During the course of the disease, it is customary 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. Fecal excretion is impaired, pediatricians advise putting enemas, check the nutrition of the nursing mother. When trying to introduce complementary foods, the constipation becomes more persistent, the child develops 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 violations - constipation and flatulence occur at the slightest deviation from the diet.

Dyspeptic manifestations are characteristic already for the initial stages of pathology

Subcompensation stage

Serves as a transitional period to decompensation and vice versa. Deterioration of the condition determines the need for the use of siphon enemas.

Decompensation stage

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

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

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 a bowel movement with laxatives are not always successful, addiction develops quickly.

Ways to identify the problem

A doctor can suspect Hirschsprung's disease after examining the ampulla of the rectum using a sigmoidoscope. The technique is available in any clinic. In the ampoule part, there are no feces after preparation for the procedure. Above, one can see rock-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 mucous membrane for histological examination (biopsy).

A biopsy is used to make the final diagnosis. Only this study makes it possible to reveal the absence of ganglia. The activity of the mediator of parasympathetic fibers of acetylcholinesterase, which is responsible for the transmission of nerve impulses, is determined by the method of special histochemical staining of the sections.

Ultrasound of the intestine reveals not the cause, but the consequences of the disease (fecal stones, blockages).

Irigoscopy shows uneven constriction in the lower intestine, overflow and congestion in the upper part

X-ray diagnostic techniques (fluoroscopy with preliminary intake of a contrast 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, mechanical obstruction due to neoplasms.

The method of anorectal manometry - carried out starting from an older age of children, provides information about the tone of the anorectal muscles, joint coordination of the sphincters and the intestinal wall. Genetic analysis - a study by 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;
• varieties of intestinal obstruction;
• megacolon - also an inherited pathology, but consists in an increase in the size of the large intestine without areas of agangliosis;
• dolichosigma - characterized by the expansion and lengthening of only 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.

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

Megacolon can be formed as a result of a long 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 nutritional protein solutions, older children are advised 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 required) ;
• physiotherapy exercises and massage of the abdomen in a clockwise direction;
• cleansing and siphon enemas;
• vitamins - are prescribed for the purpose of detoxification and strengthening the immune system;
• probiotic preparations - help to maintain 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.

Use of surgical treatment

Hirschsprung's disease in newborns threatens with impaired development of the child, the addition of infection. Operation in severe cases is recommended to be performed as early as possible for emergency indications.

When examining the intestines during the operation, the surgeon in appearance distinguishes the section of the intestine devoid of innervation: pale, thinned, atonic

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

Pediatric surgeons differ on planned treatment. Some recommend that a baby under one year old ensure the formation of a colostomy - at the first stage, bring the end of the intestine onto the skin of the anterior abdominal wall. The excreted feces will be collected in a colostomy bag.

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

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

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

For adult patients, the operation technique is selected depending on the concomitant diseases.

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

What is needed in the postoperative period?

After the operation, patients require a recovery period of up to six months. The duration depends on the severity before the intervention. There is always a high risk of infection in the area of \u200b\u200bintervention. The doctor judges this by the rise in temperature, the occurrence of vomiting, diarrhea, and bloating.

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

Gradually, the stool will return to normal. Weighing the child shows the normalization of weight gain and physical development. Surgeons observe the operated child for at least 1.5 years.

Caring for a child will require regular control of the stool, you need to pay attention to its consistency

• ask the child about feelings, identify the development of discomfort;
• organize dietary meals, observe the feeding regime;
• until a reflex to defecation is formed, it is necessary to carry out cleansing enemas at the same time;
• regularly engage in physiotherapy exercises with the child.

Possible complications

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

The accumulation of toxins causes progressive intoxication. Possible damage and rupture of the intestinal wall with fecal stones with the development of peritonitis and death.

Forecast

Timely surgical treatment avoids complications and achieves recovery in 96% of patients. When parents refuse to undergo surgery in infancy, the mortality rate reaches 80%.

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