Глюкозо-галактозная мальабсорбция: патогенез, диагностика, диетотерапия

Abstract

Congenital glucose-galactose malabsorption is an orphan autosomal recessive life-threatening disease resulting from a selective defect in the intestinal glucose and galactose/sodium co-transport system in the brush border membrane of the enterocyte. In glucose-galactose malabsorption, glucose, galactose, as well as di- and polysaccharides: starch, dextrins, maltose, sucrose, lactose cannot be absorbed. The disease manifests itself in the neonatal period in the form of severe watery osmotic diarrhea, leading to rapid dehydration and metabolic acidosis. The only treatment is diet therapy with the exclusion of all carbohydrates except fructose. In infants with glucose-galactose malabsorption, diet therapy using specialized formulas with fructose as a carbohydrate component is vital. Subsequently, such infants need the introduction of low-carbohydrate complementary foods with primarily fructose content. The article presents a clinical example of the disease course and its successful dietary correction in an infant using a specialized formula and a specific diet. Key words: congenital diarrheal disorders, glucose-galactose malabsorption, infants, diet therapy, specialized milk formula based on fructose