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Symptoms and diagnosis of malabsorption
Last reviewed: 04.07.2025

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The initial stages of differential diagnosis of malabsorption syndrome are based on the assessment of the stool character. Most diseases occurring with SMA are characterized by diarrhea or polyfecalia. In certain diseases, watery stool character predominates (disaccharidase deficiency, glucose-galactose malabsorption, chloride diarrhea, VIPoma). Steatorrhea occurs in cystic fibrosis, abetalipoproteinemia, celiac disease, exudative enteropathy. Changes in the absorption of a number of microelements, amino acids, vitamins do not affect the stool character, diarrhea does not occur, and the symptoms are associated with the formation of deficiency states and can affect the function of many systems and organs (bone, lymphatic, nervous tissue, blood, eyes, etc.).
The above differences in clinical symptoms in malabsorption syndrome significantly complicate the diagnostic program, forcing the use of modern examination methods. At the same time, one should not forget about the anamnestic data, including the child's nutritional history, this information is important for choosing a diagnostic path and prescribing adequate dietary and drug treatment.
For differential diagnostics, it is important to consider the patient's age and the time of onset of the first symptoms of the disease. In the neonatal period, congenital lactase deficiency, alactasia, secondary lactase deficiency, congenital glucose-galactose malabsorption manifest. Congenital chloride diarrhea, congenital sodium diarrhea, congenital trypsinogen deficiency, primary hypomagnesemia, congenital enterokinase deficiency, primary immune deficiency, enteropathic acrodermatitis. Cow's milk protein and soy intolerance, Minkes disease. At the age from 1 month to 2 years, deficiency of sucrase, isomaltase, secondary disaccharidase deficiency, congenital lipase deficiency, pancreatic insufficiency with hematological changes (Shwachman-Diamond syndrome), celiac disease, intestinal lymphangiectasia, biliary atresia, neonatal hepatitis, amino acid malabsorption, congenital folate malabsorption, vitamin B12 malabsorption, parasitic infections, food allergy, and immune deficiency manifest. At the age from 2 years to puberty, symptoms of secondary disaccharidase deficiency, celiac disease, Whipple's disease, parasitic infections, variable immune deficiency, and abetalipoproteinemia develop.
Relationship between the manifestation of the disease and the child's nutritional characteristics
Manifestation after administration |
Diseases |
Gluten containing products |
Celiac disease |
Cow's milk, milk formulas |
Cow's milk protein intolerance Lactose intolerance |
Sugar-containing products |
Sucrase-isomaltase deficiency |
Various products |
Food allergy and pseudoallergy |
Stopping breastfeeding |
Poor nutrition Enteropathic acrodermatitis |
The relationship between deterioration of stool and the child's nutritional characteristics
Foods that cause bowel movements to worsen |
Diseases |
Dairy products |
Lactase deficiency Cow's milk protein intolerance Glucose-galactose malabsorption |
Products containing sucrose |
Sucrase-isomaltase deficiency Glucose-galactose malabsorption |
Products containing glucose and galactose, but not fructose |
Glucose-galactose malabsorption |
Products containing starch |
Starch malabsorption (associated with exocrine pancreatic insufficiency or primary or secondary parietal digestion disorder) |
Various products |
Food allergy and pseudoallergy |
Changing the volume of food introduced |
Unhealthy diet Gastrointestinal tract anomalies Hormone-producing tumors |
Fatty foods |
Unhealthy diet Diseases leading to exocrine pancreatic insufficiency Diseases of the liver and biliary tract |