Disaccharidase deficiency is a group of gastrointestinal pathological conditions characterized by decreased activity or complete absence of any enzymes. The patient is faced with the problem of absorption and breakdown of carbohydrates: sucrose, m altase, trecolase, lactose.
Etiology and pathogenesis
Disaccharidase deficiency can be acquired or congenital.
Primary, or congenital insufficiency is formed against the background of a genetic failure and is present from the moment the child is born. The disease is associated with a defect in the mucous membrane of the small intestine. Most often, the pathology appears in premature babies, but eventually disappears, as the enzymatic function of the intestine is restored.
Lactose intolerance is quite common in children and manifests itself after breastfeeding. The prevalence of the disease in each country depends entirely on the traditional diet. If milk is an affordable and favorite food product, then the incidence rate is high. For example, in Asia, Africa and the USAthe rate of those suffering from disaccharidase deficiency is 70% of the total population and more, and in the Scandinavian countries it does not exceed 15%. In Russia, the incidence of the disease does not exceed 18%.
Secondary or acquired type of insufficiency is formed on the background of chronic intestinal pathologies. Most often, problems appear after an infectious disease of the gastrointestinal tract. Biochemical processes occur in the cells of the body, leading to the formation of disaccharidase deficiency.
Genetic aspects
In many ways, the opinions of doctors on the issue of disaccharidase deficiency differ, but they are unanimously sure of one thing - the disease has a genetic basis. There is a lot of controversy about how deficiency is inherited. Some researchers claim that the disease is transmitted in an autosomal dominant way, others - in an autosomal recessive way. But there are also issues on which all experts in scientific medicine agree.
First of all, pathology is equally common in childhood in both boys and girls. Also, doctors agree that intolerance to isom altase and m altase in most cases is completely asymptomatic. And sucrose-isom altase deficiency remains for life and most often occurs against the background of lactose intolerance. After all, both problems are the result of one mutation.
Symptomatics in Pediatrics
Disaccharidase deficiency in children is characterized by incomplete breakdowncarbohydrates and increased osmotic pressure in the intestinal lumen. In this regard, water and electrolytes enter the lumen, and active fermentation processes begin. As a result of the fermentation of carbohydrates, organic acids are formed. Due to the increased amount of carbon dioxide and hydrogen in the intestine, abundant gas formation begins. As a result, the child develops persistent diarrhea that lasts more than three weeks. Hereditary lactose intolerance of the Durand type occurs in the background of copious stools, which are foamy and have a strong sour smell. The child has an eructation, a feeling of heaviness in the abdomen. In some cases, there is a decrease in body weight against the background of dehydration. The concentration of lactose in the blood increases. In most cases, a favorable outcome is observed, and by the age of 2-3 years, all symptoms disappear, intestinal function is restored. If the disease is severe, becomes chronic, then the syndrome of impaired intestinal absorption develops, which is accompanied by metabolic disorders.
If the baby has a sucrase or isom altase form of the disease (the rarest types of pathology), then the symptoms occur as a result of the intake of sucrose in the body and appear as watery stools. When diagnosing feces, a huge amount of lactic acid is found. The child may begin to vomit. If the baby eats a large amount of lactose at one meal, then he has chills and tachycardia, hypovolemia, and increased sweating. Most often in children with this form of insufficiency, there isstarch intolerance.
Symptoms in adults
Disaccharidase deficiency in adults is milder. Patients are disturbed by intermittent or chronic diarrhea. Pathology is accompanied by slight pain in the abdomen and flatulence, rumbling. The severity of symptoms largely depends on the amount of carbohydrates ingested into the body. This lactose intolerance is also called Holrel.
Diagnostic measures
After collecting an anamnesis, a biochemical study of plasma and tests for sensitivity to carbohydrates (starch, lactose, etc.) are mandatory. An X-ray examination of the gastrointestinal tract or a biopsy of the small intestine mucosa may be prescribed. A blood test after lactose enters the body allows you to determine the level of glucose. A mucosal biopsy is only done to rule out cancerous cells.
In pediatrics, a fecal analysis is mandatory to establish the pH level and the amount of carbohydrates. In addition, the analysis for disaccharidase deficiency allows you to determine the amount of neutral fat, malignant neoplasm cells, helminths, fatty acids and erythrocytes, that is, to conduct a differential diagnosis.
A lactose tolerance test is often performed, which allows you to determine the level of glycemia after drinking lactose. And to establish the activity of the biotopes of the mucous membrane of the small intestine, the child is given kefir.
Therapy of the primary form of pathology
Disaccharidase treatmentinsufficiency in childhood is carried out against the background of a complete or partial exclusion from the diet of food provoking the disease. Diet therapy is completely aimed at bypassing the metabolic block. If alactosia is diagnosed, then the diet must be followed for life.
If the diet is chosen correctly, then the improvement in the baby's condition can be seen on the third day. The child's mood improves, appetite improves, abdominal pain stops, flatulence decreases.
Severe symptoms of disaccharidase deficiency are sometimes relieved with the help of enzyme preparations. But in the treatment of children, drugs are prescribed in a short course - from 5 to 7 days. Among the drugs may be Creon and Pancitrate. Over the next 30-45 days, probiotics are used, which will normalize the work of the intestinal microflora. The doctor may prescribe "Hilak forte", "Linex", "Biovestin-lacto" on soy and other medicines.
Types of infant formula and diet duration
For babies in the first year of life, two types of mixtures are made:
- Dairy. The protein in such products is represented by dextrin-m altose, casein. ("Bebilak", "L-110", "Eldolak-F");
- Soy or dairy-free (Nutria-soy, Humana SL, Enfamil-soy and others).
Foods with a high content of lactose are completely excluded from the diet: milk formulas, whole milk, baby cottage cheese and one-day kefir. If the child is breastfed, then stop breastfeedingbaby is not recommended.
Dishes for feeding children with intolerance are prepared not with milk, but with mixtures. Already at 4-4, 5 months of life, fruit purees, baked apples are introduced. It is believed that the first main complementary foods should consist of products with coarse vegetable fiber and cereals (buckwheat, rice). From the second half of life, it is already possible to gradually introduce products with a low lactose content (butter, hard cheese, cottage cheese whey).
The diet for disaccharidase deficiency lasts an average of 2 to 6 months, but the timing depends on the rate of recovery of lactose activity.
If a child does not tolerate sucrose and isom altase, then the amount of starch and dextrins in the diet is reduced. Such children are shown milk formulas with lactose carbohydrate components. Complementary foods are recommended to start with mashed potatoes made from vegetables and fruits (peas, Brussels sprouts, cauliflower, broccoli, green beans, tomatoes, cranberries, cherries).
Nutrition in the secondary form of pathology
The diet in case of detection of secondary disaccharidase deficiency (lactose form) suggests a temporary exclusion from the diet of dairy products and whole milk. Allowed the use of butter and hard cheese. You can eat vegetables and fruits, meat, fish, flour, eggs, that is, all foods that do not contain lactose. It is not recommended to get involved in bakery products, as most of them contain milk sugar.
With sucrase-isom altase form of the disease from the dietfoods containing m altose and sugar are excluded. They can be replaced with fructose, galactose or glucose. Honey is allowed.
If a trecalase deficiency is diagnosed, you will have to stop eating mushrooms. But most importantly, in the secondary form of insufficiency, special attention should be paid to the treatment of the underlying disease that caused the symptoms.
Clinical guidelines
Disaccharidase deficiency is a rather complex disease, despite the fact that the pathology requires only nutrition correction. The doctor, when compiling a diet, must take into account many factors:
- functional state of the liver, pancreas and other internal organs of the patient;
- age;
- intestinal sensitivity to osmotic load;
- individual characteristics and nutritional preferences;
- appetite.
Therefore, it is very important not to self-medicate and consult a specialist in time, especially when it comes to a child under the age of one year. In this case, it is generally quite difficult to make a diet.
