Disaccharidase deficiency is a group of gastrointestinal pathological conditions characterized by a decrease in activity or the complete absence of any enzymes. The patient is faced with the problem of absorption and breakdown of carbohydrates: sucrose, maltase, trekolase, lactose.
Etiology and pathogenesis
Disaccharidase deficiency can be acquired or congenital.
Primary or congenital insufficiency is formed against the background of a genetic malfunction and has been present since the birth of the baby. The disease is associated with a defect in the mucous membrane of the small intestine. Most often, the pathology appears in premature babies, but passes with time, since the enzymatic function of the intestine is restored.
Quite often in children, lactose intolerance occurs and is manifested after breastfeeding. The prevalence of the disease in each country depends entirely on the traditional diet. If milk is an affordable and favorite food, then the percentage of morbidity is high. For example, in Asia, Africa and the United States, the incidence of disaccharidase deficiency is 70% of the total population and more, and in the Scandinavian countries it does not exceed 15%. In Russia, the frequency of cases does not exceed 18%.
Secondary, or acquired type of insufficiency is formed against the background of chronic intestinal pathologies. Most often, problems appear after an infectious disease of the gastrointestinal tract. In the cells of the body, biochemical processes occur, leading to the formation of disaccharidase deficiency.
Genetic aspects
In many respects, 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. Concerning how deficiency is inherited, a large number of disputes are being waged. Some researchers argue that the disease is transmitted in an autosomal dominant way, while others - in an autosomal recessive way. But there are also issues in which all experts in scientific medicine agree.
First of all, that pathology is equally common in childhood in both boys and girls. Doctors also agree that intolerance to isomaltase and maltase in most cases is completely asymptomatic. And sucrose-isomaltase deficiency remains for life and most often occurs against the background of lactose intolerance. After all, both problems are the result of one mutation.
Symptoms in pediatrics
Disaccharidase deficiency in children is characterized by incomplete breakdown of carbohydrates and an increase in osmotic pressure in the intestinal lumen. In this regard, water and electrolytes get into the lumen, active fermentation processes begin. Fermentation of carbohydrates produces organic acids. 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, lasting more than three weeks. The hereditary lactose intolerance of the Durand type occurs against the background of abundant stools, which foam 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. In the blood, the concentration of lactose increases. In most cases, a favorable outcome is observed and by 2-3 years of life all symptoms disappear, intestinal function is restored. If the disease is severe, becomes chronic, then a syndrome of impaired intestinal absorption develops, which is accompanied by metabolic disorders.
If the baby has a sucrose or isomaltase form of the disease (the rarest types of pathology), then the symptoms occur as a result of sucrose entering the body and appear as a watery stool. When diagnosing feces, a huge amount of lactic acid is detected. The child may begin to vomit. If the baby eats a large amount of lactose in one meal, then he develops chills and tachycardia, hypovolemia, and excessive sweating. Most often, in children with this form of insufficiency, starch intolerance is observed.
Symptoms in adults
Disaccharidase deficiency in adults proceeds in a milder form. Patients are disturbed by intermittent or chronic diarrhea. Pathology is accompanied by small pains in the abdomen and flatulence, rumbling. The severity of symptoms largely depends on the amount of carbohydrates received in the body. This lactose intolerance is also called Holrel.
Diagnostic measures
After collecting an anamnesis, a biochemical plasma study and tests for sensitivity to carbohydrates (starch, lactose and others) are mandatory. An X-ray of the gastrointestinal tract or a biopsy of the small intestinal mucosa may be prescribed. A blood test after lactose enters the body allows you to determine the level of glucose. A mucosal biopsy is performed only to exclude cancer cells.
In pediatrics, a feces test is required to determine the pH level and amount of carbohydrates. In addition, analysis for disaccharidase deficiency allows you to determine the amount of neutral fat, cancer cells, helminths, fatty acids and red blood cells, that is, to conduct differential diagnosis.
Often, a lactose tolerance test is performed, which allows you to determine the level of glycemia after consuming lactose. And to establish the activity of biotopes of the mucous membrane of the small intestine, the child is given kefir.
Therapy of the primary form of pathology
Treatment of disaccharidase deficiency in childhood is carried out against the background of a complete or partial exclusion of food-provoking diseases from the diet. Diet therapy is completely aimed at bypassing the metabolic block. If alactosia is diagnosed, then a diet must be maintained for life.
If the diet is selected correctly, then the improvement in the baby's condition can be noticed on the third day. The child's mood improves, appetite, abdominal pain ceases, flatulence decreases.
To relieve severe symptoms of disaccharidase deficiency is sometimes necessary 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 "Pantsitrat." Over the next 30-45 days, probiotics are used that will normalize the work of intestinal microflora. A doctor may prescribe Hilak Forte, Linex, Biovestin-Lacto for soy and other medicines.
Types of mixtures for babies and the duration of the diet
For children in the first year of life, two types of mixtures are made:
- Dairy The protein in such products is represented by dextrin-maltose, casein. (“Bebilak”, “L-110”, “Eldolak-F”);
- Soy or dairy-free (Nutria-Soya, Humana SL, Enfamil-Soya and others).
Foods that are high in lactose are completely excluded from the diet: milk formulas, whole milk, cottage cheese and one-day kefir. If the baby is breastfed, it is not recommended to stop breastfeeding the baby.
Dishes for feeding children with intolerance are prepared not with milk, but with mixtures. Already at 4-4.5 months of life, fruit purees and baked apples are introduced. It is believed that the first main feeding should consist of products with a crude 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).
Diet for disaccharidase deficiency lasts from 2 to 6 months on average, but the timing depends on the rate of recovery of lactose activity.
If the child does not tolerate sucrose and isomaltase, the amount of starch and dextrins in the diet is reduced. Such babies are shown milk formulas with lactose carbohydrate components. It is recommended to start complementary foods with mashed potatoes made from vegetables and fruits (peas, Brussels sprouts and cauliflower, broccoli, green beans, tomatoes, cranberries, cherries).
Nutrition in the secondary form of pathology
When a secondary disaccharidase deficiency (lactose form) is detected, the diet suggests a temporary exclusion of dairy products and whole milk from the diet. It is allowed to use butter and hard cheese. You can eat vegetables and fruits, meat, fish, flour, eggs, that is, all products that do not contain lactose. It is not recommended to get involved in bakery products, as most of them contain milk sugar.
With the sucrose-isomaltase form of the disease, foods containing maltose and sugar are excluded from the diet. They can be replaced with fructose, galactose or glucose. Honey allowed.
If trekalase deficiency is diagnosed, then you will have to abandon the use of mushrooms. But most importantly, in the secondary form of insufficiency, special attention should be paid to the treatment of the underlying disease, which caused the onset of symptoms.
Clinical recommendations
Disaccharidase deficiency is a rather complex disease, despite the fact that pathology requires only nutrition correction. When drawing up a diet, a doctor 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 dietary preferences;
- appetite.
Therefore, it is very important not to self-medicate and consult a specialist in time, especially if we are talking about a child under the age of one year. In this case, it is generally difficult to make a diet.