Intestinal malabsorption in children. Malabsorption syndrome and lactase deficiency in children

Malabsorption syndrome is a symptom complex caused by a violation of normal metabolic processes due to failure of absorption in the small intestine. This chronic digestive dysfunction is manifested by a combination of clinical signs: diarrhea, steatorrhea, abdominal pain, weight loss, asthenovegetative signs, acid-base disorder, anemia.

Malabsorption - medical term denoting signs of a disorder in the absorption of macro- and micronutrients in the small intestine, leading to serious metabolic failures. Malabsorption syndrome occurs in adults and children, regardless of gender. Diagnosis of pathology is based on the results of laboratory and instrumental research: hemograms, coprogram, radiography and tomography of the small intestine, ultrasound bodies abdominal cavity. Treatment of the syndrome is etiotropic, aimed at eliminating the root cause of the disease. Patients are shown correction of hypovitaminosis, protein-electrolyte disorders, intestinal dysbacteriosis.

Classification

Malabsorption syndrome is divided into three main types:

• The congenital syndrome is rare, transmitted from parents to children, caused by gene mutations, manifests clinically immediately after birth and differs high rates lethality. In babies, it occurs in the form of cystic fibrosis, alactasia, phenylketonuria, or celiac disease.
• The acquired form of the syndrome develops against the background of existing diseases of the liver, stomach, intestines: cirrhosis, gastritis, pancreatitis, colitis, tumors, immunodeficiency states.
• Iatrogenic malabsorption is artificially created surgically for the treatment of alimentary obesity.

There are three degrees of severity of malabsorption syndrome:

1. A mild degree is characterized by a loss of body weight up to 10 kg, signs of asthenia and hypovitaminosis, and disharmonious physical development.
2. Medium degree - symptoms of severe polyhypovitaminosis, sudden weight loss, water-electrolyte imbalance.
3. Severe degree - cachexia, osteoporosis, edema, convulsions, endocrinopathies, psychomotor retardation in children.

The etiological classification of malabsorption developed by gastroenterologists and approved at the VIII World Congress:

• Intracavitary malabsorption;
• Postcellular form;
• enterocellular type.

Type of malabsorption:

1. partial malabsorption of certain substances,
2. total violation - the impossibility of absorption of absolutely all nutrients.

The reasons

Causes of malabsorption:

• Infectious pathology of the intestine - bacterial, protozoal or helminthic enteritis;
• Non-communicable diseases of the gastrointestinal tract - atrophic gastritis, ulcerative colitis, intestinal dysbiosis, diverticulitis, congenital atrophy of intestinal microvilli, allergic or autoimmune enteropathy, blind loop syndrome;
• Endocrinopathy - hyperthyroidism, impaired intestinal motility that develops when diabetes, carcinoid hormonally active tumor;
• Oncopathology - lymphosarcoma, lymphogranulomatosis, lymphoma;
• Autonomic neuropathy with total loss control over digestion;
• Long-term antibiotic therapy and NSAIDs;
• Discirculatory changes in the heart, liver, intestines: lymphangiectasia, periarteritis nodosa, mesenteric ischemia, heart failure, portal hypertension;
• Deficiency of pancreatic enzymes in genetic diseases- cystic fibrosis, celiac disease;
• Radiation sickness;
• Intestinal surgery with anastomosis or gastroenterostomy;
• Anorexia, cachexia,
• Metabolic disorders - hypovitaminosis, anemia, osteoporosis.

Diseases of the small intestine lead to damage to enterocytes and microvilli, disruption of transport nutrients through the intestinal wall. Such processes contribute to the development alimentary dystrophy, sudden weight loss, metabolic disorders and dysfunction of internal organs.

Symptoms

The syndrome of chronic malabsorption is manifested by the following symptoms: diarrhea, steatorrhea, flatulence, rumbling, pain in the abdomen, asthenization of the body.

1. Pain is concentrated in epigastric region and radiates to the lower back. It has a cramping or shingles character and resembles intestinal colic or pain syndrome with chronic pancreatitis. Painful sensations occur after eating, accompanied by bloating and loud rumbling, not stopped by taking antispasmodics. Moderate pain often becomes intense in the afternoon.
2. Stool copious, offensive, liquid or mushy. The frequency of bowel movements is often more than 15 times a day. Polyfecalia is characteristic - an abnormally large excretion of feces from the body: from 200 to 2500 grams per day. Impaired absorption of carbohydrates is manifested watery diarrhea, fats - fetid, greasy, pasty stools. Crohn's disease is characterized by feces with an admixture of blood and residues undigested food.
3. feces contain inclusions of fat, have a characteristic luster, discolor, and are difficult to wash off the walls of the toilet bowl.
4. Dyspepsia - nausea, vomiting, belching, regurgitation, loss of appetite, sensation of fluid transfusion in the abdomen.
5. Gas formation can be triggered by eating beans, fresh bread, potatoes. It intensifies in the evenings and at night.
6. Weakness in the muscles and constant thirst are signs of prolonged diarrhea.
7. Asthenic syndrome is manifested by lethargy, fatigue, indifference, decreased performance, drowsiness.
8. The skin is dry and pigmented, the nails brittle and cloudy. Often, patients develop dermatitis, eczema, alopecia. The appearance of ecchymosis and petechiae is associated with hypovitaminosis. Detect cheilitis, glossitis, stomatitis, bleeding gums.
9. Peripheral edema and ascites are associated with acid-base disturbance and hypoproteinemia.
10. Weight loss is observed in all patients, even in those who are sedentary image life and are well nourished.
11. Disorders nervous system- paresthesia and neuropathy, "night blindness", mental disorders.
12. Gland dysfunction endocrine system manifested by erectile dysfunction, decreased libido, amenorrhea, secondary hyperparathyroidism.
13. Violation of physical development.
14. Palpation is determined by the fullness of the abdomen and "doughiness" due to a decrease in the tone of the intestinal wall.

Figure: the effect of malabsorption syndrome on body systems

Complications

In the absence of timely and proper treatment, malabsorption syndrome can lead to the development of serious complications:

Diagnostics

Currently, there are a huge number of prescriptions and clinical recommendations for gastroenterologists that describe new methods for diagnosing and treating malabsorption syndrome.

To put correct diagnosis, it is necessary to carry out full examination sick. First, they are interviewed and find out the first signs of pathology, their intensity, time of appearance, connection with food intake. Then collect the family anamnesis and the anamnesis of life.

Examination of the patient and palpation of the abdomen reveal its tension and soreness.

Laboratory research:

1. hemogram - signs of anemia;
2. coprogram - the presence in the feces of muscles and starch, fatty inclusions, the identification of helminthic invasions;
3. blood biochemistry reveals dysfunctions of internal organs.

Instrumental diagnostics:

• Ultrasound of the abdominal organs evaluates their condition and the presence of pathology.
• X-ray examination reveals signs of small intestine disease: unevenly thickened and deformed relief of the mucous membrane, smoothness of folds, accumulation of fluid and gas, increased or decreased motility small intestine.
• CT and MRI make it possible to visualize the abdominal organs and diagnose their pathologies that caused this syndrome.
• Endoscopic examination of the small intestine determines the existing pathologies, allows you to perform biological material sampling for histological and bacteriological tests by means of a puncture biopsy.
• Densitometry is a modern method that allows you to examine bone structures, evaluate bone density bone tissue and determine the content of the mineral part in it.
• Auxiliary methods - FGDS, rectoscopy, irrigoscopy, colonoscopy.

Treatment

Treatment of malabsorption syndrome is aimed at eliminating the pathology that has become its root cause. Complex therapy the disease consists in prescribing a diet, drugs, surgical intervention.

Diet

Diet therapy is aimed at correcting the diet of patients. They are forbidden to use confectionery, sauces, strong tea and coffee, sorrel, spinach, fried foods, canned food, semi-finished products, beans, sausages, alcohol, ice cream, fast food. Loose cereals, fruits and berries are allowed, boiled vegetables, herbal tea, fat-free lactic acid products, yesterday's bread, rabbit meat, chicken, turkey. Patients need to eat fractionally and often, every 2-3 hours.

traditional medicine

Drug therapy consists in the appointment of:

1. antimicrobial drugs - "Tetracycline", "Ceftriaxone", "Co-trimoxazole",
2. medicines that thin and remove bile - "Allohol", "Hofitol",
3. enzyme agents - "Creon", "Mezim", "Pancreatin",
4. painkillers and antispasmodics - "No-shpa", "Spazmalgon",
5. multivitamin complexes,
6. pre- and probiotics - "Laktofiltrum", "Acipol", "Bifiform",
7. enterosorbents - "Polysorb", "Enterol", "Bilignin",
8. glucocorticosteroid drugs - "Betamethasone", "Hydrocortisone",
9. antacids - "Smekta", "Gastal", "Reni",
10. antidiarrheal medicines - "Loperamide", "Intetrix".

Surgical treatment consists in carrying out:

• colectomy with stoma,
• resection of the affected lymphatic vessels,
• sclerosis or ligation of veins,
• intrahepatic portocaval shunting.

ethnoscience

There are ways traditional medicine to treat malabsorption in the small intestine. Before using them, you should consult with a specialist.

Prevention and prognosis

Prevention of malabsorption syndrome is aimed at preventing diseases that contribute to its occurrence.

Main preventive actions consist in:

• restoration of the functions of the gastrointestinal tract,
• elimination of signs of inflammation of the digestive system,
• prevention of endocrinopathy,
• timely detection and correction of enzyme deficiency,
• periodic visits to a gastroenterologist,
• proper nutrition,
• observance of the daily routine,
• prophylactic intake of enzyme preparations in the event of digestive disorders,
• observance optimal mode work and rest,
• physical education,
• combat obesity and hypodynamia,
• prophylactic intake of vitamins and microelements,
• fight against alcoholism and tobacco smoking,
• limitation of psycho-emotional stress.

Mild forms of malabsorption syndrome have a favorable prognosis. Diet therapy and healthy lifestyle life allow to eliminate the existing disease. Progressive malabsorption is different severe violations absorption processes and pathofunctional changes, which are based on increasing hypoxia of all tissues, leading to death.

Malabsorption syndrome is a common pathology that can be controlled by doctors and the patient. Prompt response to minor changes in functioning digestive system makes the prognosis of pathology exceptionally favorable.

Video: Malabsorption Syndrome Specialist

This condition develops against the background of acute and chronic inflammation of the mucosa of the colon and small intestine and is of an acquired nature. Although the possibility of primary intestinal damage, which is associated with congenital anomalies its structure and development.

With intracavitary malabsorption, which develops against the background of chronic diseases of the digestive system, the digestion of fats is mainly disturbed. With enterocellular malabsorption, absorption by the cells of the intestinal mucosa is disrupted due to a lack of enzymes of various substances (glucose, galactose, fructose, salts bile acids and etc.).

It should be noted that malabsorption syndrome becomes most pronounced some time after past illness intestines, when the main manifestations inflammatory process pass and the child gradually returns to the usual rhythm of life and nutrition.

Symptoms and signs of malabsorption syndrome in children

The main manifestations of this disease are changes in the stool in a sick child. Exactly pathological variants changes in fecal masses should suggest the idea of ​​​​malabsorption syndrome.

First of all, the child's stool becomes frequent, sometimes plentiful, which can make parents think about exacerbating a recent illness. However, after some time, fecal masses acquire a specific character. Outwardly, they are a grayish shiny mushy mass and, which is very important, with a very unpleasant sharp sour smell. The presence of the luster of feces is easily explained by the presence of undigested fat in them, which, upon close examination, looks like frozen drops. This is a very important sign that will allow you to correctly assess the condition of the child and help the doctor in making a diagnosis.

With malabsorption syndrome, the child is almost completely deprived of all nutrients and minerals, since all of them are excreted undigested from the body along with feces. This must be remembered and do not feed the child excess food, especially since overeating does not favorably affect general condition patient and may worsen. With malabsorption syndrome, the entire intestinal mucosa becomes edematous, inflamed, and the absorption of digestive products is difficult. Additional volumes of food only increase inflammation in the intestines and cause even more swelling of the mucosa.

An important manifestation of malabsorption syndrome is a change in the appearance of a sick child and his behavior. A child suffering from disorders of all types of metabolism (which is expressed in this pathology) cannot fully develop harmoniously. The appearance of such children is very specific: they are pale, lethargic, very thin. Attention is drawn to the pronounced thinning of the subcutaneous fat layer, the sharpening of facial features, which looks haggard. Some children have a waxy pallor (or, as they say, porcelain skin color). The skin of the child is dry to the touch, flabby, easily gathers into a fold, lacks elasticity and peels off in places.

Since the main tissue changes are concentrated in the intestine, it also changes, and this is expressed not only in violation of the function of the organ and metabolic processes, but also manifests itself externally.

The abdomen of a child suffering from malabsorption syndrome has a characteristic appearance: it round shape, in some cases protrudes to the sides and looks disproportionately against the background of thinner limbs. These manifestations develop as a result of severe swelling of the loops of the inflamed intestine.

Violation of the digestion of incoming food leads to the fact that the intestines begin to contract strongly, which is manifested by rumbling and seething in the stomach.

Nails take the form of striated brittle and crumbling plates.

The hair on the scalp thins, splits, breaks when combed, becomes dry and stiff.

Stomatitis can develop on the oral mucosa - specific disease, which is manifested by the formation of ulcers and redness of the mucosa. Itching, burning and soreness in the mouth make eating excruciatingly painful and even impossible. This further harms the patient's condition, because against the background of a pronounced vitamin deficiency, all metabolic processes and food becomes impossible.

Not only the mucous membrane of the mouth becomes inflamed, but also the tongue itself.

It becomes red, edematous, its papillae are smoothed out.

The teeth of a sick child are also changing. The enamel becomes thinner, acquires a transparent or bluish tint, carious cavities quickly and often form in the teeth, which can be hidden: a huge cavity is found under an outwardly small hole.

Deficiency of minerals in the body is manifested primarily by a lack of calcium and fluorine, which is especially reflected in skeletal system child. During the period of active growth and knowledge of the world around them, children prefer active games, during which limb fractures may occur. In the course of the disease, they acquire pathological character when they occur in a baby even when moving within their own bed.

With a long course of this disease, the child begins to lag behind in growth and development. This is noticeable against the background of his healthy peers, who look more well-fed and tall.

In addition to external parameters, the character of the child and the perception of the surrounding reality change significantly. He becomes nervous, whiny, reacts to various stimuli in the same way: either by crying, or simply indifferently. The child loses the feeling of joy, he ceases to experience pleasure from previously pleasant moments and things.

A gloomy, selfish, hysterical personality is formed. These manifestations and changes in character were combined into a single concept: “unfortunate child syndrome”.

Since the food entering the intestines of the patient is not digested and does not undergo final decay, then, in addition to the symptoms of growth retardation and physical development, they join and pronounced manifestations multivitamin deficiency. All vitamins and minerals contained in food, supplements and fortified preparations are not absorbed and are simply excreted from the body in an undigested form with feces. Despite the unsatisfactory condition, the child may continue to want to eat.

Treatment of malabsorption syndrome in children

At given state showing protective food regimen and a diet that is made for each child individually.

In the treatment, pancreatic enzymes (creon, pancitrate), therapeutic nutritional mixtures (Alfare, Nutrilon-Pepti-TCS, Portagen), preparations for normalizing the composition intestinal microflora(bifidumbacterin, lactobacterin), vitamins.

Prevention of malabsorption syndrome consists in the treatment of acute and chronic inflammation intestines in children.

Parents should remember that only the right and complete treatment underlying disease can improve digestion.

Very important in terms of preventing malabsorption syndrome is the diet of the child, especially in early childhood. Pay more attention to the preventive intake and content of vitamins in food.

We must not forget about simple rules, hygiene standards behavior, the child should be taught that after visiting public places and the toilet, be sure to wash your hands. After all, it is on the hands that pathogens usually accumulate, which cause inflammation of the intestines and stomach.

The syndrome of malabsorption and maldigestion is a specific clinical complex. Conditions are often caused by a lack of a number of trace elements and vitamins in the body. Further in the article, we will understand why the syndrome of glucose-galactose malabsorption occurs, what are its clinical signs and what methods of therapy are used.

General information

Malabsorption syndrome, the causes of which will be described in more detail below, may be acquired or congenital. In the first case, it is usually found in patients with cystic fibrosis and celiac disease. The acquired type of pathology is diagnosed against the background of Crohn's and Whipple's diseases, rotavirus enteritis, intestinal lymphangiectasia, tumors in the small intestine of a malignant nature, cirrhosis, chronic pancreatitis and other disorders.

Classification

Malabsorption syndrome is caused by a violation of the digestive and transport function of the small intestine. This, in turn, provokes metabolic disorders. Malabsorption syndrome (impaired absorption) has three degrees of severity:

Congenital and acquired type of pathology

Hereditary manifestation is found in 10% of patients. Usually these are patients with disaccharidase deficiency, celiac disease, Shwachman-Diamond syndrome, cystinuria, cystic fibrosis. The congenital type is diagnosed against the background of Hartnup's disease. AT this case tryptophan malabsorption syndrome occurs, caused by a violation of the transport function in the cells of the intestinal mucosa. In 3% of all cases of detection of the acquired form, patients are allergic to cow's milk protein.

Provoking factors

Congenital malabsorption syndrome in children is usually detected immediately after birth or during the first 10 years of life. This group of patients is characterized by more high level mortality. It usually occurs due to exhaustion in early age. In general, survival of patients depends on the underlying pathology that led to malabsorption. Congenital deficiency of isomaltase and sucrase can act as a factor that provokes malabsorption syndrome in children. This deficiency is found in the indigenous population of Greenland and the Canadian Eskimos. In the former, cases of insufficiency of trielase (sugar contained in mushrooms) are also recorded. Congenital malabsorption syndrome in adults is diagnosed in patients from the Mediterranean region, Africa and Asia. As for the acquired type of pathology, the frequency of its diagnosis depends on the prevalence of pathologies that cause its development.

Etiology and pathogenesis

Glucose-galactose malabsorption syndrome reflects the state in which the transport function of the small intestine is located. The process of food digestion consists of the stages of membrane (parietal) and abdominal digestion. Accordingly, his disorders are manifested by violations of these stages.

Clinical picture

What are the symptoms of malabsorption syndrome? Symptoms of pathology are divided into two groups. The first includes specific, and the second - non-specific signs. Let's consider them in more detail.

General (non-specific) signs

These include: bloating, pain and rumbling in the abdomen, anorexia, fatigue. Also among common manifestations weakness and flatulence should be highlighted.

• Pain in the upper abdomen. They can give to the lower back or have a shingles character. Soreness is noted in patients with chronic pancreatitis.
• Fatigue and weakness may be due to electrolyte imbalance, hyperphosphatemia and anemia.
• Cramping pains and rumbling in the abdomen found in patients with lactase deficiency.
• flatulence is the result of overgrowth of bacteria in the intestines. This is due to the accumulation of undigested food.

These are not all nonspecific signs that accompany malabsorption syndrome. Symptoms of pathology may be visible. In the process of palpation of the abdomen, a feeling of fullness, "testiness" appears due to a decrease in the tone of the intestinal wall. Patients have diarrhea, an increased volume of feces. The feces are offensive, have a mushy or watery consistency. The stool can acquire a greasy sheen and become acholic if the patient has a violation of the synthesis of bile acids or difficulty in their entry into the intestines. Pathology is characterized by weight loss. This symptom provoked by a lack useful compounds. The most pronounced weight loss in patients with Whipple's disease and celiac disease. In the latter case, malabsorption syndrome in children, the treatment of which is mainly aimed at eliminating the deficiency of trace elements and vitamins, is accompanied by growth retardation. Patients also have steatorrhea. With her, feces have light color, bad smell. It contains fat. Such feces are poorly washed off after defecation from the walls of the toilet bowl. Glucose malabsorption syndrome is accompanied by dry skin, hair loss, increased fragility of the nail plates. Patients have glossitis, ecchymosis, dermatitis. This is due to a deficiency of vitamins (folic acid, B 12, C in particular) and iron.

Specific features

These include primarily peripheral edema. They appear due to giproproteinemia. Edema is localized mainly in the area of ​​​​the feet and legs. Chronic malabsorption syndrome in severe course is accompanied by ascites. It is associated with a disorder of absorption and loss of endogenous protein compounds, hypoalbunemia. Multivitamin deficiency leads to a change in the state of the mucous membranes and tongue, skin appendages. In some patients, age spots begin to appear on the feet, shins, hands, neck and face. Due to a lack of vitamin K, subcutaneous or petechial hemorrhages may occur. There is also bleeding gums. Vitamin A deficiency leads to disorders twilight vision, D - bone pain, E and B1 - neuropathy and paresthesia, B12 - megaloblastic anemia (against the background of short bowel syndrome or Crohn's disease).

Mineral metabolism disorders

They occur in all patients. A lack of calcium can provoke paresthesia, pain in the bones and muscles, and convulsions. Trousseau and Chvostek symptoms are observed in those suffering from hypomagnesemia and hypocalcemia. On the background severe course pathology calcium deficiency together with vitamin D deficiency can provoke the occurrence of osteoporosis in the tubular bones, pelvis and spine. Due to the high neuromuscular excitability inherent in hypokalemia, a symptom of the so-called "muscle roller" is observed. Patients are worried about lethargy, muscle weakness. With a lack of iron, zinc and copper, a rash develops on the skin, iron deficiency anemia, and body temperature increases.

endocrine exchange

Against the background of a prolonged and severe course of the syndrome, signs of polyglandular insufficiency are observed. In patients, the functions of the gonads are disturbed. In particular, impotence develops, libido decreases. In women, the cycle of menstruation is often disturbed, amenorrhea may appear. When the process of calcium absorption is disturbed, secondary hyperparathyroidism may occur. Against the background of pathology, signs of the disease that led to impaired absorption can be quite clearly manifested.

Malabsorption syndrome: treatment. Principles and Objectives

What are the treatments for this disease? Therapeutic measures are mainly aimed at eliminating the signs that accompany the malabsorption syndrome. In adults, treatment is prescribed depending on the severity of the pathology. Therapeutic measures allow you to normalize body weight, eliminate the underlying disease that caused the malabsorption syndrome. Treatment includes correction of the patient's diet, protein metabolism disorders, vitamin deficiency, motor disorders in digestive tract. Also, therapeutic measures are taken to eliminate dysbacteriosis.

Diet

The menu of patients includes dishes with high content protein compounds and reduced fat levels. With hypoproteinemia, mixtures for enteral nutrition are used. They contain the necessary trace elements, vitamins and nutrients. For better assimilation these elements are administered by means of a probe.

Medical impact

It includes:

• Correction of mineral deficiency and multivitamin deficiency.
• Antibacterial therapy.
• Hormonal treatment.
• Taking antidiarrheal and antisecretory drugs.
• Drugs with choleretic effects.
• pancreatic enzymes.
• Antacid therapy.

Surgery

Surgical methods are used depending on the underlying pathology that led to the development of the syndrome. So, surgical intervention performed in patients with complications from ulcerative colitis, hepatic diseases, Hirschpung and Crohn's diseases, intestinal lymphangiectasia. In the latter case, for example, resection (removal) of pathologically altered lymphatic vessels in the intestine is carried out, or anostomoses are formed that provide lymph outflow into the intestine. venous system. Against the background of Crohn's disease, a total, with the imposition of an ileostomy, colectomy is performed. In the presence of portal hypertension due to cirrhosis, sclerosis or ligation of vessels, as well as portosystemic shunting with further liver transplantation, are used as a prevention of bleeding from esophageal veins damaged by varicose veins.

Forecast

In some cases, malabsorption syndrome is transient and is eliminated during diet therapy. Atrophic changes mucosa of the small intestine due to acute enteritis or malnutrition, provoke damage to approximately 80% of the entire suction surface. After the cause-significant factor of the syndrome is eliminated, the restoration of the membrane is noted for 4-6 days. In particular severe cases more time is required - from two months.

With the progression of the syndrome, serious complications and a decrease in the life expectancy of patients due to exhaustion are likely. For example, patients suffering from congenital disorders absorbability of fat transport, often die in young age due to cardiovascular complications. Against the background of excessive bacterial growth, the adaptive mechanisms of the small intestine can be suppressed. This, in turn, increases the likelihood of developing liver disorders. The long-term prognosis of the syndrome will depend on the duration of use parenteral nutrition. This process, in turn, can be complicated by thrombosis and sepsis of the catheterized vein. Liver failure can lead to death. Against the background of parenteral nutrition, the mucosa in the digestive tract does not receive trophic stimulation. This significantly slows down shell recovery.

The term for transferring a patient to enteral nutrition depends on the length of the small intestine, the preservation of the functions of the large intestine, the presence of the ileocecal valve, and the intensity of peristalsis in the digestive tract.

groups of diseases or pathological conditions resulting from deficiency, absence or incomplete activity of one or more enzymes is called fermentopathy or enzymopathy.

Divided into 2 groups:

1. hereditary, genetically determined by the lack of secretion, or a decrease in the activity of one / several enzymes;
2. acquired, which are most often caused by chronic diseases, often pathology of the gastrointestinal tract of a different nature.

There are not just a lot of hereditary fermentapathies, but a lot. These are diseases:

• carbohydrate metabolism (diabetes mellitus; disaccharidase deficiency, etc.);
• amino acid metabolism (phenylketonuria);
• lipid metabolism (lipidoses);
• steroid metabolism (adrenogenital syndrome, etc.);
• blood and hematopoietic organs(congenital microspherocytosis, etc.)
• metabolism caused by a defect in gastrointestinal enzymes (this group includes variants of the syndrome malabsorption) and others (total 13 groups).

Syndrome options malabsorption, whose pathology is localized in the intestine, belong to several of these groups, since the pathogenesis of the disease may be a violation different types metabolism (carbohydrates, proteins, etc.).

Malabsorption syndrome(syndrome of disturbed intestinal absorption) is a clinical symptom complex of a group of intestinal diseases, the basis of which is a deficiency, absence or decrease in the activity of one or more enzymes in the small intestine, which leads to a violation of the digestion or absorption of various food components or to the absence of these processes.
Based on this definition, medical terminology 2 more terms added:

1. Maldigestia- violation of the process of cavity or membrane digestion of food (in the lumen or in the alkaline border of the small intestine, respectively);
2. Malaassimilation- violation of digestion and absorption of food.
   So, in the case of pathology, there can be only the process of maldigestion or only the process of malabsorption, or maldigestion can precede malabsorption, and the violation of these 2 processes together is called malassimilation.

However, in medical terminology, the meaning of the used word "malabsorption" is usually similar to the meaning of the term "malassimilation".

In children, the most common form of not only disaccharidase deficiency, but also the syndrome malabsorption is lactase deficiency (LN)– 10-80%. Such big difference depends on the ethnic population. For example, the minimum indicated number is the frequency of LN among Russians, the maximum is among people of Mordovian nationality.
Mother's milk (unfortunately, in this case contains lactose) and is the only type of food for the child before the introduction of complementary foods and makes up a significant part of the diet until the end of the 1st year of life. At healthy child Not all lactose is digested in the small intestine. Part of it in an undigested form, while maintaining maximum activity, enters the large intestine.
The main functions of lactose in the body of a child:

1. the main easily digestible source of energy;
2. supports the transport of calcium, manganese and magnesium in the small intestine;
3. is a necessary factor in the formation of normal biocenosis of the colon, is a nutrient medium for lactic acid bacteria;
4. fatty acids, as a product of lactose fermentation, create the necessary acidic environment;
5. a source of galactose necessary for the formation of the central nervous system and retina.

And only an excessive intake of undigested lactose into the colon leads to pathological abnormalities.
The pathogenesis of the development of the disease
In violation of lactose function milk sugar in the small intestine, it is not completely or partially split and not absorbed, accumulates in the intestine, increases the amount of chyme and feces, reaches the large intestine in excessive amounts and leads to disorders:

• gas formation, which is clinically manifested by diarrhea;
• in the colon, lactose is fermented, preventing the growth of putrefactive microflora and at the same time becoming a nutrient substrate for the reproduction of microorganisms, lactose is catalyzed by the bacterial flora, which causes the accumulation organic acids in the intestines and a large amount of hydrogen in the exhaled air.

Based on 2 words - lactose (carbohydrate) and lactase (enzyme) - there are several synonymous names for this disease:

• lactase deficiency(lactase deficiency, alactasia);
• lactose malabsorption(lactose intolerance).

Classification
1. By origin lactase deficiency
A - primary LN(the reason is a decrease in lactase activity with a morphologically preserved enterocyte):
1. congenital (genetically determined) is alactasia caused by a genetic defect.
2. Neonatal (transient) in premature and immature children at the time of birth. The disease manifests itself from the first days of a child's life, when the digestion of lactose in the intestine is limited and is explained by the immaturity of intestinal enzymes.
3. Constitutional (late or adult type of LN).
Persistence (stay, persist) lactase child type manifests itself in children 4-5 years old. This form of LN is associated with ethnic characteristics.
B - secondary LN, more often hypolactasia, is 80%. It is based on damage to intestinal enterocytes against the background of diseases of various genesis (sometimes diseases of other organs), which ultimately leads to a decrease in lactase activity.
2. According to the severity:partial(hypolactasia), complete(alactasia).

Clinical signs of lactase deficiency
Congenital LN develops immediately after birth:

• at first, the child is restless, capricious; anxiety is replaced by lethargy, weakness; sleep is disturbed;
• appetite reduced flesh to anorexia;
• pale skin; perioral, periorbital cyanosis;
• muffled heart sounds, systolic murmur at the apex;
• the phenomena of flatulence are expressed: visually large belly, bloating, rumbling;
• stools frequent, watery, frothy, with mucus, very sour smell;
• vomiting, sometimes frequent;
• accumulation of fluid in the intestine can give a clinic of "pseudoascites";
• dysbiosis often develops;
• as a result (when the child does not eat, vomiting, diarrhea are expressed), exsicosis of varying degrees and toxicosis develop; in severe cases, damage to the kidneys, liver occurs, signs of hemorrhagic diathesis occur; after a while, hypotrophy; with untimely treatment - a lethal outcome.

- similar clinical signs are expressed after birth, but after a few days / weeks they smooth out and disappear. In a premature baby, this depends on the degree of prematurity - the lower the gestational age of the newborn, the later the lactose digestion process normalizes.
Constitutional LN:

• periodically there is diarrhea with a very sour smell, a large number of undigested fat - steatorrhea, vomiting, bloating, rumbling, feeling of colic, sometimes headache Symptoms appear after ingestion of foods with lactose;
• with a large deficiency of the enzyme, but taking a large volume of milk, the symptoms are significant;
• if the lactase deficiency is small and the child drinks little milk, the clinic may be insignificant or even absent.

With secondary LN against the background of normal tolerance of dairy products, clinical signs of diarrheal syndrome develop (diarrhea, vomiting, flatulence, etc.) in response to the intake of dairy food after an illness, a course of antibiotics, etc. In an older child, symptoms may be supplemented by complaints of:

• general malaise, weakness, headache;
• belching, nausea;
• bad taste in the mouth and bad breath;
• abdominal pain, most often aching in nature, different localization; sometimes there may be acute pain;
• a feeling of heaviness and a feeling of bloating in the abdomen.

Diagnosis of the disease
In diagnosis, not only laboratory and other methods of examination are of no small importance, but also a careful analysis by parents of the dynamics of the disease in a child.

Diagnostic methods are as follows:

1. Detailed collection of information (on complaints), obstetric anamnesis, anamnesis of the disease and life.
2. Positive dynamics with the exclusion of dairy products with lactose.
3. A lactose tolerance test is prescribed when the patient's condition improves.
4. X-ray of the intestine - is carried out simultaneously with the lactose test.
5. Examination of faeces.
6. During remission: to determine the reaction of the child to milk, a test load (10 ml of milk / kg b.w.) is carried out. A positive sign is the absence of intestinal disorders.
7. The concentration of hydrogen in the exhaled air.
8. AT last resort, a biopsy of the mucous membrane of the proximal small intestine is examined - the presence and activity of the lactase enzyme is determined.

Treatment of lactase deficiency in children
Basic principles of treatment different forms lactase deficiency are similar, but their intensity and duration depend on the severity of the disease and the type of deficiency.

1. In the primary form the main principle of treatment is to reduce the amount of lactose in the food received (sometimes the flesh to the point of complete exclusion). And yet, in infancy, it is undesirable to exclude lactose completely, even with congenital insufficiency. At the same time, drug therapy is carried out.
2. In the secondary form The main principle is the treatment of the underlying pathology that caused LN. Reducing the amount of lactose in the food received will also be necessary, but only temporary (until the small intestine mucosa is restored).

diet therapy
This is the main treatment for lactase deficiency. First binding rule treatment and objective method diagnostics are elimination diets.

There are 3 types and they are used in the following order:

• empirical - is prescribed in the first days of the disease, lasts about 1 week;
• elemental - during the 2nd week, a gradual expansion of the menu is carried out;
• supporting - the duration is different; is to expand the menu as much as possible.

Congenital LN . Since the disease manifests itself in the first days / weeks of a child's life, diet therapy is prescribed immediately at the first suspicion of alactosia. In the case of congenital LN:

• if the mother has breast milk and there are no special enzyme preparations, the child is completely or partially transferred to specialized low- or lactose-free mixtures (the issue is resolved individually);
• on the artificial feeding a specialized lactose-free mixture is selected for the baby, after some time you can try a low-lactose mixture. An indicator that allows you to test a low-lactose mixture is the absence of intestinal disorders after the test (trial load);
• for children on mixed feeding, a specialized mixture is selected in the form of supplementary feeding or a complete replacement).
• Blends are changed as needed. A free feeding regimen used in a healthy child is not recommended for lactase deficiency. It is necessary to feed the baby relatively clearly, by the hour, so that a possible amount of lactase is produced in the intervals between feedings.

So, with primary LN, before the introduction of complementary foods, the child is on a special elemental diet.
Maintenance diet. The composition of the food received with this diet, as well as the duration of the diet, depends on the degree of insufficiency:

• in the past, a lifelong lactose-free diet was recommended for alactasia. According to modern data, in the presence of enzyme preparations, given that lactose is a bifidogenic factor, a lactose-free diet is not advisable. With natural feeding, enzyme therapy is mandatory. With mixed and artificial feeding, it is necessary to introduce a lactose-free or low-lactose mixture into the diet, which will make up only a part of the total amount of the mixture (the rest is breast milk or a conventional adapted mixture). The volume of the therapeutic mixture is selected for each child individually;
• in the case of hypolactia, a similar individual decision on the use of a special mixture, medicinal enzyme preparations and a special diet.

A low-lactose diet is often maintained throughout life.
According to modern international rules, complementary foods (including juice, cottage cheese and yolk) are introduced into the diet of a healthy child at 6 months. In case of lactase deficiency, it is recommended to administer earlier (it is possible at 4 months):

1. it is desirable to give first vegetable puree, after which porridge from cereals with low content gluten (rice, buckwheat, corn, etc.).
2. the main thing at the same time is to cook everything in water, and not in milk.
3. in addition, specialized lactose-free porridge mixes are now available.
4. the timing of the introduction of certain types of food is recommended to be slightly changed:

• vegetable dishes, as well as veal, beef, minced fish - a little earlier;
• fruit and berry juices, fruit puree, cottage cheese(whey-pressed and washed warm water; preferably from three-day kefir), egg yolk - a little later;
• gradually introduced into the diet vegetable oil, from 8 months - kefir (preferably three-day, since it contains only 0.5% lactose); after the 1st year - yoghurts, curdled milk with a reduced amount of lactose.

In the future, when the child grows up, it is necessary to consider the following:

1. in the diet for a long time, foods with lactose are significantly reduced or excluded;
2. for a long time it is not recommended to give food that increases gas formation in the intestines;
3. medications, which include lactose, apply under medical supervision (homeopathic, biological products, etc.);
4. it is necessary to introduce fish, soy dishes, green and leafy vegetables into the diet for the intake of calcium and, accordingly, vitamin D (in the form of a drug, or taken with food - eggs, liver, or endogenous, when exposed to ultraviolet rays on the skin).

Neonatal (transient) LN requires short-term treatment, the duration of which depends on the degree of prematurity of the child. If the mother has milk, the child receives a low-lactose formula for premature babies, the volume of which is determined individually by the doctor each time. Very rarely, the baby is transferred to artificial feeding. After some time, the child completely switches to mother's milk.
Nutrition of a nursing mother does not affect the amount of lactose in breast milk, but :

• mother must comply with the diet;
• exclude products that irritate the digestive tract;
• do not take products that increase gas formation.

Constitutional LN . It should be said that this is not a disease, but a condition. However, with recurrent clinical signs of LN (diarrhea, bloating, rumbling colic), it is necessary to conduct an examination and a positive result prescribe treatment.
Secondary LN. The main method of treatment is the therapy of the underlying disease. The principles of the diet will be determined by the doctor. If the treatment of secondary LN was ineffective (in the patient, when giving products with lactose, clinical signs of lactose intolerance again appeared, the amount of carbohydrates in the feces increased, etc.), it is necessary to think about possible manifestation primary (constitutional) LN.

Drug treatment of lactase deficiency in children
In addition to diet therapy, in the case of primary LN, drug treatment is of no small importance, and in the presence of special preparations, drug treatment is of primary importance. Medications are prescribed for other forms of the disease. Questions about the choice of drugs, dose, duration of use are decided individually, depending on the intensity of the patient. pathological process and effectiveness of the therapy.
1. Enzyme therapy. At present, in addition to mixtures, drugs have been developed and used in many countries that “play the role” of a deficient enzyme, which facilitated the treatment of the patient and improved his quality of life, ensured the full development of the child.
The choice of composition, dose and form enzyme preparation in lactase deficiency, as in other fermentopathies, it is determined by the etiopathogenesis of digestive disorders and the individual characteristics of the patient. During treatment various forms LN used the following drugs:

• Lactase (The dose of lactase and the period of its use are selected by the doctor individually);
• Lactase Baby (used for lactase deficiency in children from birth to 7 years old);
• Lactase Enzyme;
• Lactraz (for older children);

The use of these drugs allows you to save natural feeding in children. With artificial feeding, mixtures containing lactose and enzyme preparations can be used, which makes it possible to provide the child with good nutrition.
In addition to the considered therapy, justified by the principles of the pathogenesis of the disease, in connection with the defeat different systems When treating LN, the following should be taken into account:

• to carry out prevention and, if necessary, treatment of dysbiosis;
• use calcium preparations;
• to improve bowel function or in violation of the function of the stomach, pancreas, liver, enzyme preparations of other groups are prescribed. When choosing a dose of any enzyme preparation, it is necessary to take into account the composition of the food, the needs of the patient, the effectiveness of the treatment;
• to improve hydrolysis processes, B vitamins are effective;
• stimulating therapy can be carried out (2-3 weeks after the start of treatment);
• if necessary, antioxidant treatment is carried out;
• if necessary, prevent the stabilization of enterocyte membranes;
• use adaptogens if necessary;
• do physical therapy.

The main criteria for the effectiveness of treatment:

1. thickening of the stool and a decrease in its frequency;
2. disappearance of flatulence and abdominal pain;
3. increase in indicators of physical development according to age (primarily body weight);
4. restoration of NPR indicators;
5. normalization of laboratory data (the main one is the reduction of lactose in feces).

Constant attention and medical supervision, diet therapy and periodic examinations are required only in the primary form of lactase deficiency.

At timely diagnosis and proper treatment Currently, the prognosis for LN treatment is favorable.

Malabsorption is a violation of the absorption of nutrients in the small intestine, leading to serious metabolic disorders. Malabsorption syndrome is accompanied by a range of clinical manifestations, from diarrhea and abdominal pain to anemia and hair loss.

Causes of Malabsorption Syndrome

What is this syndrome? Malabsorption (impaired absorption in the intestine) is a syndrome characterized by a set of clinical manifestations (diarrhea, steatorrhea, polyhypovitaminosis, weight loss), developing as a result of a violation of the digestive and transport functions of the small intestine, which in turn leads to pathological changes metabolism.

In most cases, malabsorption syndrome first manifests itself in the first year of a child's life. This is due, first of all, to a change in nutrition, because at first the child receives mother's milk or a special mixture instead of mother's milk, but soon begins to receive the first complementary foods, then a large assortment of products enters the diet - this is where malabsorption manifests itself from all its bad sides.

Malabsorption syndrome is usually caused by serious illness in the body, most often a disease of the digestive system or a disease of other body systems that causes damage to the small intestine. Malabsorption can be caused by:

• stomach diseases,
• liver,
• pancreas,
• cystic fibrosis,
• infectious, toxic, allergic lesions small intestine.

Types and degrees of the syndrome

Malabsorption syndrome can be either congenital or acquired:

• The congenital type of pathology is diagnosed in 10% of cases. It can usually be detected in the first few days of a child's life.
• Acquired malabsorption in children can begin to progress at any age against the background of existing pathologies of the intestines, stomach, and liver.

Malabsorption syndrome is caused by a violation of the digestive and transport function of the small intestine. This, in turn, provokes metabolic disorders. Malabsorption syndrome has three degrees of severity:

• 1 degree - weight loss, increasing general weakness, poor performance;
• Grade 2 - there is a fairly noticeable loss of body weight (more than 10 kg), there are violations of the functions of the gonads, pronounced symptoms of a deficiency of potassium, calcium, and many vitamins;
• Grade 3 - severe weight loss, bright clinical picture electrolyte deficiency, anemia, edema, osteoporosis, endocrine disorders, convulsions are sometimes observed.

Symptoms of malabsorption

The nature of the clinical manifestations of pathology directly depends on what caused its development. Therefore, violations of protein, fat, carbohydrate or water-salt metabolism. There may also be signs of vitamin deficiency.

Violation of the absorption of substances causes diarrhea, steatorrhea, bloating and gas formation. Other symptoms of malabsorption are due to nutritional deficiencies. Patients often lose weight despite an adequate diet.

Doctors have identified a list of symptoms that are characteristic of malabsorption:

1. Diarrhea (diarrhea). The stool becomes very frequent, there may be 10-15 bowel movements per day, the feces are fetid, mushy, and may be watery.
2. Steatorrhea (fatty stools). The feces become oily, a shiny coating is visible to the naked eye, patients note that the feces are difficult to wash off the walls of the toilet.
3. Stomach ache. They occur, as a rule, after eating, are always accompanied by a loud rumbling, do not disappear after eating. medicines with antispasmodic or analgesic action.
4. Weakness in the muscles, constant feeling of thirst. This symptom occurs against the background of prolonged diarrhea - the body loses too much fluid, which is manifested by these signs.
5. Change appearance . A person notes fragility and a tendency to delamination of the nail plates, the hair on the head actively falls out, skin become dull and take on a gray tint.
6. Weight loss. Weight loss occurs without any effort on the part of the patient. At the same time, he continues to eat fully, his lifestyle is hypodynamic.
7. Fatigue. It is manifested by a decrease in working capacity, constant drowsiness (moreover, the patient is disturbed at night), general weakness.

All patients suffering from malabsorption syndrome are prone to progressive weight loss.

Complications

Malabsorption syndrome can cause the following complications:

• deficiency of various vitamins;
• violation menstrual cycle among women;
• severe weight loss or poor gain in children;
• deformation of the bones of the skeleton.

The diagram shows the mechanism of formation of complications in malabsorption syndrome

Diagnostics

Diagnosis of malabsorption syndrome is quite simple, but time-consuming. To do this, you need to go through a series of not only laboratory research, but also instrumental:

1. history taking and assessment of symptoms;
2. initial inspection. With the help of palpation, the doctor has the opportunity to identify the tension of the anterior abdominal wall, as well as areas on the abdomen in which the patient feels pain;
3. blood analysis. With malabsorption, there is a decrease in hemoglobin, as well as red blood cells;
4. blood biochemistry;
5. coprogram. In excrement, you can find dietary fiber, particles of undigested food, fats, and so on;
6. esophagogastroduodenoscopy;
7. colonoscopy;
8. CT or MRI.

What needs to be examined?

• Small intestine (small intestine)
• Large intestine (large intestine)

What tests are needed first?

• General blood analysis
• Fecal analysis

Diagnosis should only be made after comprehensive examination patient.

Treatment of malabsorption syndrome

First of all, the treatment of malabsorption should be aimed at treating the disease that caused the malabsorption syndrome. For example, pancreatitis is treated with enzyme and antispasmodic drugs, choleretic and antispasmodic drugs, cholelithiasis- antispasmodics or perform surgery, malignant tumors- carry out the operation.

Treatment of malabsorption can be divided into three main types:

• Diet therapy;
• Medical method of treatment;
• surgical method.

It is prescribed individually, depending on which particular nutrient is not absorbed. For example, with congenital malabsorption against the background of celiac disease, it is necessary to eliminate all foods containing gluten. With lactose intolerance, fresh milk is removed from the diet.

The diet should be based on:

• fractional nutrition;
• use increased amount vegetables and fruits (to make up for the deficiency of vitamins);

You need to give up:

• alcohol,
• spicy food,
• fast food and semi-finished products,
• fatty meat,
• ice cream and very cold drinks.

The patient must himself make a diet by observing his condition. Find out which foods make your symptoms worse and cut them out.

Medical treatment of malabsorption

The drug treatment of the disease, in turn, includes:

1. Preparations that correct the lack of vitamins and minerals;
2. Antibacterial drugs;
3. Antacid therapy;
4. hormone therapy;
5. Medications for choleretic effects;
6. Antidiarrheal and antisecretory drugs;
7. pancreatic enzymes.

Operation

Surgical methods are used depending on the underlying pathology that led to the development of the syndrome. Thus, surgery is performed in patients with complications in ulcerative colitis, liver diseases, Hirschpung and Crohn's diseases, intestinal lymphangiectasia.

At the core successful treatment lies as early as possible the diagnosis of the disease and the sooner the therapy is started, the less chance there is for deep metabolic shifts.

Forecast

Sometimes in mild cases, malabsorption syndrome is corrected with diet. In other cases, the prognosis for this disease directly depends on the course of the underlying pathology, the severity of malabsorption and insufficient intake of substances into the blood.

If the main factor that caused the occurrence of this syndrome is eliminated, correction of the consequences of prolonged dystrophy may take a long time.

The progression of malabsorption threatens the development terminal states and can lead to death.

Prevention methods

1. Prevention and timely treatment organ diseases gastrointestinal tract(enterocolitis, cholecystitis, pancreatitis, etc.).
2. Diagnosis and treatment of hereditary diseases: cystic fibrosis (a systemic hereditary disease in which exocrine glands are affected), celiac disease (a hereditary disease associated with a lack of enzymes (substances involved in the digestion process) that break down cereal protein - gluten).
3. Regular intake of vitamins, a periodic course of taking enzyme preparations.
4. Periodic course of examination of the state of the gastrointestinal tract - ultrasound of the abdominal cavity, endoscopy, gastric probing, etc.
5. You need to lead a healthy lifestyle - stop smoking alcohol, avoid stress and nervous breakdowns.

If malabsorption syndrome is not treated, then it progresses rapidly: exhaustion of the body can lead to the most various pathologies, including liver failure, which increases the risk of death of the patient.