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Enzymopathy



Enzymopathy is a pathological condition caused by the absence, deficiency or violation of the structure of certain cellular enzymes that provide digestive processes.

The clinical picture is due to impaired absorption through the mucous membrane of the small intestine of one or more nutrients. Clinical manifestations of malabsorption syndrome in the form of diarrhea, weight loss, protein deficiency, signs of hypovitaminosis.

Malabsorption syndrome can be primary (hereditary) or secondary (acquired). Classification. Pathogenetic classification.

1. Exocrine pancreatic insufficiency:

1) cystic fibrosis of the pancreas;

2) chronic malnutrition with protein and calorie deficiency;

3) Schwachman-Diamond syndrome;

4) chronic pancreatitis with exocrine insufficiency;

5) specific enzymatic defects (lipases, trypsinogen).

2. Bile acid deficiency:

1) obstruction of the biliary tract (atresia of the biliary tract, cholelithiasis, cancer of the head of the pancreas);

2) resection of the ileum;

3) cirrhosis of the liver, chronic hepatitis (decreased secretion);

4) dysbiosis.

3. Disorders of the stomach:

1) postgastrectomy syndrome;

2) vagotomy;

3) malignant anemia caused by a deficiency of vitamin B12.

4. Motor impairment:

1) hyperthyroidism;

2) diabetes mellitus;

3) scleroderma;

4. amyloidosis.

5. Pathology of the intestinal mucosa:

1) celiac disease;

2) lactase deficiency;

3) sucrose and isomaltase deficiency (combined);

4) exudative enteropathy;

5) intolerance to protein of cow's milk (and / or soy);

6) enterokinase deficiency;

7) abetalipoproteinemia (Bassen-Kornzweig syndrome);

8) violation of the transport of amino acids (tryptophan, methionine, lysine, etc.);

9) vitamin B12 malabsorption (transcobalamin-II deficiency);

10) congenital disorders of the processes of absorption of folic acid;

11) bleeding diarrhea;

12) vitamin D-dependent rickets;

13) enteropathic acrodermatitis;

14) Menkes syndrome (curly hair syndrome);

15) Crohn's disease;

16) malabsorption after transferred enteritis;

17) tropical sprue;

18) Whipple's disease;

19) chronic infections (immunodeficiency), in particular giardiasis;

20) primary immune deficiency (Wiskott — Aldrich syndrome);

21) congenital short intestine;

22) short bowel syndrome after resection (resection of the proximal small intestine, ileum resection, ileocecal resection);

23) eosinophilic gastroenteritis.

Etiology. The etiology in each case is different (the absence or reduced activity of lactase, a-glucosidase, enterokinase). Among the hereditarily caused impaired intestinal absorption, disaccharidase deficiency (sucrose, lactase, isomaltase), true celiac disease (gliadin intolerance), enterokinase deficiency, monosaccharide intolerance (glucose, fructose, galactose), amino acid absorption disturbance (cystinuria, drone) are found. malabsorption of vitamin B12 and folic acid, etc. Secondary, or acquired, malabsorption occurs in many chronic diseases of the stomach and intestines (punk eatity, hepatitis, dysbacteriosis, psoriasis, Crohn's disease, etc.).

Clinic. The clinical picture in children: chronic diarrhea with a high content of lipids in the feces dominates.
Dystrophy gradually develops, children lag behind in growth. Clinical manifestations of vitamin deficiency, impaired water-electrolyte balance (dry skin, seizures, glossitis, hypokalemia, hyponatremia, hypocalcemia, etc.) are added. Pancreatic digestion deficiency syndrome is characterized by (pancreatic steatorrhea): creatorrhea with a predominance of unchanged muscle fibers, steatorrhea, represented by neutral fat, amylorrhea (extracellular starch). For the syndrome, impaired bile flow are typical (hepatogenic steatorrhea): steatorrhea (with a predominance of fatty acids against a background of less neutral fat with a complete absence of soaps), creatorrhea is possible (altered muscle fibers prevail).

Intestinal diarrhea is characterized by steatorrhea, represented mainly by soaps and fatty acids.

Diagnostics. Methods of paraclinical examination.

1. General blood test.

2. General urine analysis.

3. Feces for giardia, helminth eggs, scraping for enterobiosis.

4. Coprogram (expanded, expanded): starch, neutral fat, fatty acids, connective tissue, iodophilic microflora in normal feces are absent.

5. Biochemical research of blood serum: proteinogram, functional liver tests (ALT, AST, alkaline phosphatase, bilirubin, cholesterol), K, Fe, Ca, P, folic acid, vitamin B12, carotene).

6. Sugar curve - a flat sugar curve indicates diffuse damage to the mucous membrane. It should be noted that glucose testing is carried out on an empty stomach, after 15-30, 60-120 minutes.

7. d-xylose test. d-xylose is a pentose absorbed passively through an intact mucosa. It is excreted by the kidneys. With malabsorption, most xylose is lost with stool and does not reach the circulatory system. Not less than 30% is excreted in the urine, i.e. more than 1.25 g from the administered per os (5 g). (PS According to studies conducted, this test has a direct correlation with the glucose load test. Given the complexity of the d-xylose test).

8. Load tests with lactose, maltose, sucrose, starch. When loaded with lactose, the rise in the product of the breakdown of lactose in the blood after oral administration of 50 g of lactose by less than 20% indicates a lack of lactase.

9. Chromatographic identification of carbohydrates, amino acids contained in urine.

10. Hydrogen breath test: Determination of the amount of hydrogen in the exhaled air after loading with sugars at a dose of 2 g / kg (up to a maximum of 50 g). The test is based on the fact that if sugar is not adsorbed in the upper sections of the small intestine, then it reaches the distal sections, in which intestinal bacteria act on it to produce hydrogen. The latter is rapidly absorbed and exhaled in a measurable amount. An increased amount of exhaled hydrogen (more than 20 g / million during the first 2 hours) is considered a pathology. (PS In patients taking AB, and in about 2% of healthy individuals, there is no hydrogen-producing intestinal flora).

11. Sowing feces for dysbiosis.

12. The study of pancreatic enzymes in the blood and urine.

13. Ultrasound of the pancreas, liver, gall bladder.

14. Determination of chlorine (Cl) in sweat fluid. If necessary, a molecular genetic study for cystic fibrosis.

15. X-ray of the digestive tract - information about the time of passage of barium through the intestines, damage to the mucous membrane, the presence of stricture or tumor.

16. Gastroduodenoscopy with biopsy. A small bowel biopsy helps in the diagnosis of celiac disease, with many other diseases it is not indicative.

17. Colonoileoscopy with biopsy.

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Enzymopathy

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