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Review
. 2012;13(4):4168-4185.
doi: 10.3390/ijms13044168. Epub 2012 Mar 29.

Congenital diarrheal disorders: an updated diagnostic approach

Gianluca Terrin  1 , Rossella Tomaiuolo  2   3   4 , Annalisa Passariello  5 , Ausilia Elce  2   3 , Felice Amato  2   3 , Margherita Di Costanzo  5 , Giuseppe Castaldo  2   3 , Roberto Berni Canani  5   6
Affiliations
Review

Congenital diarrheal disorders: an updated diagnostic approach

Gianluca Terrin et al. Int J Mol Sci. 2012.

Abstract

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.

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Figures

Figure 1
Figure 1
Identification of pathogenetic osmotic or secretory mechanisms leading to diarrhea.
Figure 2
Figure 2
Panel A. Diagnostic diagram of congenital diarrheal disorders determined by an osmotic mechanism. Panel B. Diagnostic diagram of congenital diarrheal disorders determined by an osmotic mechanism.
Figure 2
Figure 2
Panel A. Diagnostic diagram of congenital diarrheal disorders determined by an osmotic mechanism. Panel B. Diagnostic diagram of congenital diarrheal disorders determined by an osmotic mechanism.
Figure 3
Figure 3
Diagnostic diagram of congenital diarrheal disorders determined by a secretory mechanism.
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