Int. J. Mol. Sci. 2012, 13(4), 4168-4185; doi:10.3390/ijms13044168
Review

Congenital Diarrheal Disorders: An Updated Diagnostic Approach

1email, 2,3,4email, 5email, 2,3email, 2,3email, 5email, 2,3email and 5,6,* email
Received: 18 February 2012; in revised form: 2 March 2012 / Accepted: 19 March 2012 / Published: 29 March 2012
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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: molecular analysis; osmotic diarrhea; secretory diarrhea; defects of digestion; absorption and transport of nutrients and electrolytes; defects of enterocyte differentiation
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MDPI and ACS Style

Terrin, G.; Tomaiuolo, R.; Passariello, A.; Elce, A.; Amato, F.; Di Costanzo, M.; Castaldo, G.; Canani, R.B. Congenital Diarrheal Disorders: An Updated Diagnostic Approach. Int. J. Mol. Sci. 2012, 13, 4168-4185.

AMA Style

Terrin G, Tomaiuolo R, Passariello A, Elce A, Amato F, Di Costanzo M, Castaldo G, Canani RB. Congenital Diarrheal Disorders: An Updated Diagnostic Approach. International Journal of Molecular Sciences. 2012; 13(4):4168-4185.

Chicago/Turabian Style

Terrin, Gianluca; Tomaiuolo, Rossella; Passariello, Annalisa; Elce, Ausilia; Amato, Felice; Di Costanzo, Margherita; Castaldo, Giuseppe; Canani, Roberto Berni. 2012. "Congenital Diarrheal Disorders: An Updated Diagnostic Approach." Int. J. Mol. Sci. 13, no. 4: 4168-4185.

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