Syndrome of glucose-galactose malabsorption of the intestine in children and adults: symptoms, causes, treatment

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Malabsorption is a whole complex of chronic disorders that accompany the processes of absorption, digestion and transport of nutrients occurring in different parts of the small intestine.

In medical sources the disease has a number of synonymous names:

• malabsorption syndrome;
• syndrome of impaired intestinal absorption;
• is a syndrome of chronic diarrhea.

Due to the disorder of the transport and digestive functions of the small intestine and having a large number of clinical manifestations, malabsorption syndrome, can become the culprit of a pathological metabolic disorder.

Malabsorption is often of an innate nature. Diagnosed in every tenth case, it manifests itself either immediately after the birth of the child, or during the first decade of his life.

The pathology of the acquired character, progressing against the background of diseases of the pancreas, liver, intestines and stomach, can be observed in patients of any age and sex.

Malabsorption, characterized by impaired absorption of almost any nutrient, is called total. If pathology affects the assimilation of only certain components, it is an isolated( or partial malabsorption).

Causes of the disease

Causation of development of primary malabsorption can be genetically determined enzyme pathology( pathology caused by a deficiency, complete absence or partial damage to the structure of enzymes responsible for the digestive process), which can lead to:

• intolerance to fructose;
• impaired absorption of certain amino acids;
• for glucose-galactose intolerance;
• infringement of absorption of folic acid or vitamin B12.

The emergence of secondary malabsorption, occurring much more often than the primary one, can occur in patients suffering from:

• Helicobic invasions.
• Atrophic gastritis is a serious inflammatory process leading to damage to the mucous membranes of the stomach.
• Pancreatitis is an inflammation of the pancreas.
• Vegetative neuropathy is a disease of the nervous system, characterized by a complete loss of control over the functioning of the digestive system.
• Diseases that result in damage to the intestinal walls( eg, lymphoma, Crohn's disease, radiation enteritis).
• Gluten enteropathy( celiac disease) is a digestive disorder caused by damage to the small intestine villi by a number of foods containing gluten( gluten) and related proteins found in cereal crops: oats, wheat, barley and rye.
• Hyperthyroidism is a clinical condition characterized by increased hormonal activity of the thyroid gland secreting an excessive amount of thyroid hormones( triiodothyronine and thyroxine).
• Syndrome of increased bacterial growth.
• Whipple's disease is a rare chronic infectious disease, primarily affecting the mucous membranes of the small intestine.
• Infectious enteritis - inflammatory diseases of the small intestine caused by viruses or bacteria.
• Colitis - inflammatory diseases of the mucous membranes of the large intestine.
• Zollinger-Ellison syndrome is a tumor that affects the islet apparatus of the pancreas, actively secreting gastrin, a hormone that causes the stomach to produce excess hydrochloric acid.
• Diseases characterized by impaired circulation of blood: heart failure, portal hypertension( increased arterial pressure in the portal vein), all kinds of circulatory disorders in the intestine.
• Deficiency of bile salts - an ailment resulting from stagnation of bile in the gallbladder and its ducts.
• Complete absence of alpha-glucosidase, enterokinase, beta-galactosidase and individual pancreatic enzymes.
• From the effects of prolonged use of medicines of anti-inflammatory and antibacterial action.

In some cases, the onset of a syndrome of impaired intestinal absorption can:

• progressive depletion( in patients suffering from bulimia or anorexia);
• dysbiosis;
• anemia( anemia) is a clinical-haematological syndrome, characterized by a decrease in the level of hemoglobin and a decrease in the number of red blood cells in the blood;
• hypovitaminosis is an acute deficiency of vitamins in the body;
• increased intestinal motor function;
• Osteoporosis is a clinical condition accompanied by a significant decrease in bone density.

Classification of

Depending on the origin of the malabsorption syndrome, there may be:

1. Primary, arising for no apparent reason.
2. Hereditary, observed in patients suffering from a number of congenital ailments of the enzyme system( for example, Hartnup disease and Schwamman-Diamond syndrome) and diseases characterized by disturbed transport of nutrients in the structures of the intestinal mucosa.
3. Acquired( secondary), developing against a background of many diseases of internal organs. Secondary malabsorption may be:

• endocrine, observed in patients with diabetes mellitus;
• gastrogenic, developing after performing gastrectomy and in patients suffering from gastritis or stomach cancer;
• iatrogenic, resulting from prolonged use of antibiotic, cytostatic and laxative drugs, as well as after radiotherapy sessions;
• postoperative, developing after resection of the small intestine;
• pancreatogenic, provoked by pancreatic diseases( tumor of islet apparatus, pancreatitis);
• is caused by a number of vascular, infectious and parasitic intestinal diseases.

There is another type of classification according to which cases of malabsorption are classified according to the severity of their clinical course:

• To the light( first degree) , states are characterized by insignificant signs of hypovitaminosis, some decrease in performance, general weakness and weight loss not exceedingten kilograms.
• The average( second) degree of refers to cases in which the body continues to lose weight( weight loss is more than ten kilograms) the patient significantly decreases the level of sex hormones, the water-electrolyte metabolism is broken, anemia develops and a pronounced deficiency of vitamins and trace elements( polyhypovitaminosis).
• The severe( third) degree of includes conditions accompanied by severe electrolyte and multivitamin deficiency, expressed by anemia, osteoporosis, seizures, edema, severe endocrine disorders and a significant body weight deficit. For children with a severe degree of malabsorption, a significant delay in psychomotor and physical development is observed.

Symptoms of

The clinical picture of malabsorption syndrome is so bright that an experienced specialist can make a preliminary diagnostic conclusion only on the basis of data obtained during a survey and examination of the patient who first came to the reception.

Characteristic clinical manifestations of malabsorption are represented by:

• Diarrhea - frequent( up to fifteen times a day) stinking liquid stools, having a mushy( sometimes watery) consistency. The amount of feces with malabsorption is most often increased. If the daily volume of feces fluctuates between 300-2500 g, doctors talk about the presence of polypheic.
• Greasy discolored stools - steatorrhea. Having become oily, stools acquire a well-marked shiny coating and are poorly washed off the walls of the toilet bowl.
• Strong abdominal pains, localized, as a rule, in its upper part and irradiating into the lumbar region. Emerging immediately after a meal and invariably accompanied by a loud rumbling, they do not pass even after taking antispasmodics and pain medications. In patients with chronic pancreatitis, the pain is shrouded, and in patients with a low level of lactase - a cramping character.
• Tendencies to a significant( reaching the degree of extreme exhaustion - cachexia) weight loss. Despite the inactive way of life and adequate nutrition, the patient grows thin, without applying the slightest effort.
• Constant strong thirst and severe muscle weakness. The culprit of these symptoms is prolonged diarrhea, leading to severe dehydration of the body.
• Significant changes in appearance. The patient's skin, becoming dry and dull, is covered with a multitude of pigment spots and polymorphous eruptions, becomes grayish in color, and the nail plates become turbid and become brittle and exfoliating. The patient has an active hair loss.
• Increased fatigue. The patient is much less efficient;during the day, he feels constant weakness and drowsiness, and at night complains of insomnia.
• Iron deficiency anemia is a hematologic syndrome characterized by impaired hemoglobin production due to acute iron deficiency and manifested by sideropenia( reduced iron content in blood serum) and anemia.
• Intolerance to milk and products made from it, even in people who had no problems using these products before the onset of the disease. After the development of malabsorption, the use of milk provokes the patient to develop strong cramping pains in the abdomen and increased gas production.

Separate conversation deserves a symptom of a pronounced deficit of vitamins and trace elements, due to their insufficient intake into the body of a sick person.

During long-term observations of patients suffering from malabsorption syndrome it was found that:

• The lack of vitamin B, combined with a deficiency of calcium, provokes increased fragility of bones, until the appearance of osteomalacia - a severe condition, accompanied by softening and deformation of bones.
• The lack of vitamins B1 and E is the culprit of the development of all kinds of paresthesias( sensitivity disorders, accompanied by a feeling of creeping "goose bumps", numbness and tingling) and neuropathies( non-inflammatory nerve lesions).
• Patients with hypovitaminosis A experience a twilight vision disorder - the so-called "night blindness".
• When vitamin B12 deficiency occurs in patients with the syndrome of the small intestine or Crohn's disease, megaloblastic anemia( commonly referred to as malignant anemia) occurs - the pathology of the hematopoiesis, which is a violation of the production of RNA and DNA.This condition is very often accompanied by the development of glossitis - inflammation of the tongue.
• Hypovitaminosis K is manifested by subcutaneous hemorrhage and red spots - petechia - on the surface of the skin.
• The lack of copper and zinc provokes skin rash.
• In patients with impaired electrolyte metabolism, muscle pain and seizures occur. The combination of hypokalemia( potassium deficiency) and hypocalcemia( calcium deficiency) leads to spasmophilia, a disease accompanied by increased nervous excitability, indicated by convulsive twitching of the larynx and extremities. Characteristic signs of this disease are spasmophilic symptoms of Tissot and Khvostek.
• Patients suffering from acute potassium deficiency have a pronounced symptom of a "muscular cushion."The essence of this phenomenon is that after the impact of the neurological malleus on any muscle in this place is formed and for some( in the most severe patients - up to one minute) time, a cushion or dimple is retained, surrounded by a roller.
• The most severe cases of abnormal electrolyte metabolism and lowering of the protein level in the blood are accompanied by the formation of extensive peripheral edema and the appearance of abdominal dropsy( ascites) - a secondary condition characterized by the accumulation of peritoneal fluid in the abdominal cavity.

In patients with secondary malabsorption, there is also a clinical symptomatology typical of the disease that provoked its development.

Glucose-galactose malabsorption

Glucose-galactose( or monosaccharide) malabsorption( HGM) is a rare genetic disease capable of being transmitted exclusively by inheritance and therefore attributable to a particular kind of pathology we are considering.

Monosaccharide malabsorption is both congenital( manifested from the very first feeding of the baby), and acquired( as a result of all kinds of disturbances in the digestive organs).

Violating the process of tissue respiration, glucose-galactose malabsorption provokes a delay in the mental and mental development of a newborn child. This is due to a decrease in the glucose level in the baby's blood, caused by the inability of red blood cells to transport oxygen.

The natural consequence of this process is the energy starvation of the cells of the nervous system and the gradual accumulation of galactose metabolites in the child's body( in the cells of his brain, heart muscle, lens, liver, kidneys) that disrupt the functioning of these organs.

Accumulation of metabolites of galactose in the liver can lead to the development of cirrhosis. Their high concentration in the tissues of the kidneys and intestines does not allow amino acids to enter the bloodstream.

Chronic irritation of the mucous membranes of the small intestine with metabolites of monosaccharides leads to an increase in the level of liquid in it, which greatly complicates the process of assimilation of nutrients. This mechanism is the cause of diarrhea - the most characteristic manifestation of glucose-galactose malabsorption.

The clinical symptomatology of HGM manifests itself immediately after the use of any products containing polysaccharides( represented, for example, by dextrin-maltose or starch), monosaccharides( the exception is fructose) or disaccharides( maltose, sucrose and lactose), so a person suffering from this pathology, will have to permanently exclude them from their diet.

To date, glucose-galactose malabsorption is considered an incurable disease.

Complications of

The main complications of the syndrome of impaired intestinal absorption are caused by acute deficiency of nutrients entering the bloodstream.

Therefore, malabsorption may lead to the development of:

• Dystrophy.
• Iron deficiency( hypochromic or microcytic) anemia - a syndrome caused by an acute iron deficiency required for the production of hemoglobin. The clinical picture of hypochromic anemia is characterized by the presence of general weakness, drowsiness, fainting, frequent dizziness, a significant decrease in physical endurance and mental performance. The skin of a sick person is characterized by unnatural pallor. The patient complains of tinnitus, severe palpitations and shortness of breath, which occurs even with minor physical exertion.
• Megaloblast( B12-folic deficiency) anemia. The cause of this disease is a violation of the synthesis of DNA and RNA, which distorts the normal course of erythrocyte maturation. As a result of these pathologies in the bone marrow of the patient is an excessive number of megaloblasts - large nucleated cells, which are the precursors of red blood cells. Clinical manifestations of megaloblastic anemia have much in common with the symptoms of iron deficiency anemia. A characteristic reaction of the body to the lack of vitamin B12 is the development of funicular myelosis, a severe lesion of the spinal cord, manifested by the appearance of an unstable shaky gait, weakness of the lower limbs, a sense of numbness, the development of paresis and, in the most severe cases, paralysis.
• Violations of the reproductive function of the human body( fertility), as a result of which people suffering from malabsorption syndrome can not produce viable offspring. In men, impotence may develop, in women there is a significant violation of the hormonal background, leading to the termination of menstruation and the inability to conceive, bear and give birth to a child. For many women with malabsorption syndrome, there is a complete absence of sexual desire.
• Neurovegetative disorders.
• Polyorganic pathologies due to the presence of polyhypovitaminosis and acute deficiency of vital microelements.

Diagnosis

The laboratory for fecal, blood and urine tests has the leading role in the diagnosis of malabsorption:

• A general blood test will indicate the presence of signs of iron deficiency and megaloblastic anemia and hypovitaminosis K, which affects the lengthening of prothrombin time, a laboratory indicator that helps assess the rate of blood clotting.
• When evaluating the results of a biochemical blood test, the physician draws attention to the level of albumins, the content of vitamins, calcium and alkaline phosphatase.
• An extensive study of stool mass - coprogram - necessarily indicates the presence in them of starch and muscle fibers. The lack of certain enzymes can affect the acidity( pH) of the stool.
• If a specialist has a suspicion that the process of assimilation of fatty acids is disturbed in the patient's body, he may require a test for steatori. Before collecting feces, the patient undergoes special training, prescribing him to consume at least one hundred grams of fat for several days. After collecting the daily feces, the lab technician determines how much fat is contained in it. Normal is an indicator that does not exceed seven grams. If this value is exceeded, there is every reason to assume the presence of malabsorption. If a result exceeding fourteen grams is obtained, the gastroenterologist concludes that the pancreas is not functioning properly. The elimination of half( and even more) fats from the calves by the patient, together with food, indicates the presence of celiac disease or a severe( third) degree of malabsorption.
• The nature of the impairment of absorption in the small intestine is determined using a Schilling test or a D-xylose test.
• Sometimes there is a need for bacteriological examination of stool.

Instrumental diagnostic procedures for detecting malabsorption are of subsidiary character:

• With the help of an overview radiograph of the abdominal cavity, the first manifestations of small intestine diseases can be detected. A radiograph will indicate the presence of strictures, diverticula, interintestinal anastomoses, horizontal levels of gas or fluid in the blind loops of the small intestine, ulceration of the mucous membranes and intestinal walls.
• Procedures for ultrasound examination of the abdominal cavity, magnetic resonance and multispiral computed tomography, visualizing internal organs, help to identify a variety of concomitant pathologies capable of provoking malabsorption.
• The endoscopy of the small intestine makes it possible to take tissue samples for performing a number of laboratory analyzes( histology) and aspirate the contents of the small intestine for the purpose of carrying out its bacteriological study capable of detecting the presence of pathogenic microflora and the degree of colonization of the small intestine by all kinds of microorganisms.

Treatment of the syndrome in adults and children

When a malabsorption is detected, the patient is assigned a special diet( the so-called "table number 5"):

• The patient should be fed a meal( every 2 hours) and fractional.
• The amount of food eaten at a time should not exceed 250 grams.
• To replenish the vitamin reserve, the patient should consume foods containing a large amount of folic acid and vitamins of the C and B groups.
• The patient should completely stop using fat, meat and fish fatty varieties, baked pastries, mayonnaise, spicy sauces and seasonings. From his diet, it is necessary to remove semifinished products, canned food, pickles, black coffee, sorrel and spinach.
• Extremely useful products are: crumbly porridges, lean meats( chicken, veal, rabbit), slightly dried wheat bread, sweet berries and fresh fruit, low-fat cottage cheese, fruit and berry kissels and compotes.

After assessing the severity of the patient's condition and the severity of clinical symptoms, the doctor can prescribe:

• Parenteral( by injection) administration of trace elements, vitamins, protein and electrolyte mixtures.
• For the elimination of dysbacteriosis( a condition characterized by a reduction in the number of beneficial lacto- and bifidobacteria and an increase in the number of pathogens), probiotics are used, preparations prepared from specially dried bacteria. Once in the intestine of a person, they come to life and, having started to reproduce, gradually restore its normal microflora.
• Antibiotics.
• Enzymatic preparations.
• Drugs that promote liquefaction and bile withdrawal.
• Painkillers( in the presence of severe pain).
• Regulators of intestinal motility.
• Immunomodulators.

In the presence of the underlying disease requiring surgical treatment, the patient is operated. Most often, surgical intervention requires:

• severe complications of inflammatory bowel diseases;
• agangliosis( Hirschsprung's disease) is a pathology that arises from the congenital malformation of the nerve plexuses responsible for the innervation of the large intestine;
• Crohn's disease.

Prevention of

Prevention of malabsorption syndrome consists in the prevention of ailments that can provoke its occurrence. This category includes:

• inflammatory bowel disease, liver, pancreas;
• disorders of the endocrine system;
• diseases of the gastrointestinal tract.

In the presence of congenital pathologies of the enzymatic system, the best prevention of malabsorption is the timely detection of a deficiency of an enzyme and its adequate drug correction.

To prevent hypovitaminosis, seasonal intake of vitamin-mineral complexes is necessary.

An important preventive value is the correct organization of food, prescribing:

• inadmissibility of overeating;
• reception of small portions of food in strictly allotted hours;
• strict restriction of spicy, salty and too fatty foods.