Congenital diarrheal disorders: an updated diagnostic approach

Int J Mol Sci. 2012;13(4):4168-85. doi: 10.3390/ijms13044168. Epub 2012 Mar 29.


Congenital diarrheal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life. Infants with these disorders have frequently chronic diarrhea of sufficient severity to require parenteral nutrition. For most CDDs the disease-gene is known and molecular analysis may contribute to an unequivocal diagnosis. We review CDDs on the basis of the genetic defect, focusing on the significant contribution of molecular analysis in the complex, multistep diagnostic work-up.

Keywords: absorption and transport of nutrients and electrolytes; defects of digestion; defects of enterocyte differentiation and polarization; defects of enteroendocrine cells differentiation; defects of modulation of intestinal immune response; molecular analysis; osmotic diarrhea; secretory diarrhea.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chronic Disease
  • Diarrhea / congenital*
  • Diarrhea / diagnosis*
  • Diarrhea / genetics
  • Digestive System Diseases / congenital*
  • Digestive System Diseases / diagnosis*
  • Digestive System Diseases / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Lipid Metabolism, Inborn Errors / blood
  • Malabsorption Syndromes / congenital
  • Malabsorption Syndromes / genetics
  • Molecular Diagnostic Techniques / methods*