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

Abstract

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).

Keywords: Abetalipoproteinemia; Chloride diarrhea; Chylomicron retention disease; Congenital diarrhea; Fructose; Glucose-galactose; Hypobetalipoprotenemia; Hypocholesterolemia; Lactase; Maltase-glucoamylase; Saccharase-isomaltase; Sodium diarrhea.