Congenital disorders of intestinal digestion and absorption (sugars, proteins, lipids, ions).

Best Pract Res Clin Gastroenterol

Department of Pediatric Nutrition, Gastroenterology and Hepatology, Hôpital des enfants de Toulouse, 330, avenue de Grande Bretagne, TSA 70034, 31059 Toulouse cedex 9, France; CHU de Toulouse, France.

Published: March 2022

Congenital diarrhea may result from 2 main different mechanisms: 1) osmotic diarrhea is caused by the non-digestion-absorption of nutrients leading to the non-absorbed nutrients going into the lumen, increasing the osmotic force and driving fluids; 2) secretory diarrhea induced by the inhibition of intestinal absorption of electrolytes, increasing electrolyte and water flux towards the intestinal lumen. The malabsorption of macronutrients (carbohydrates, proteins and lipids) induces energy deficiency with symptoms depending on the macronutrient: carbohydrates with watery acidic diarrhea; protein with rapid malnutrition, edema, and hypoalbuminemia; and lipids with malnutrition, steatorrhea and hypocholesterolemia. Ionic malabsorption (Cl and Na) is responsible for severe and rapid dehydration sometimes with prenatal abnormalities (polyhydramnios and bowel dilatation).

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http://dx.doi.org/10.1016/j.bpg.2022.101785DOI Listing

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