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

Congenital Diarrheal Disorders: An Updated Diagnostic Approach

1
Department of Gynecology-Obstetrics and Perinatal Medicine, University of Rome “La Sapienza”, Viale del Policlinico 1, Rome 00161, Italy
2
CEINGE-Advanced Biotechnology, Via Comunale Margherita, Naples 80131, Italy
3
Department of Biochemistry and Biotechnology, University of Naples “Federico II”, Via Pansini 5, Naples 80131, Italy
4
Biotechnology Science, University of Naples “Federico II”, Via De Amicis, Naples 80131, Italy
5
Department of Pediatrics, University of Naples “Federico II”, Via Pansini 5, Naples 80131, Italy
6
European Laboratory for the Investigation of Food Induced Diseases, University of Naples “Federico II”, Via Pansini 5, Naples 80131, Italy
*
Author to whom correspondence should be addressed.
Received: 18 February 2012 / Revised: 2 March 2012 / Accepted: 19 March 2012 / Published: 29 March 2012
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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. View Full-Text
Keywords: molecular analysis; osmotic diarrhea; secretory diarrhea; defects of digestion; absorption and transport of nutrients and electrolytes; defects of enterocyte differentiation molecular analysis; osmotic diarrhea; secretory diarrhea; defects of digestion; absorption and transport of nutrients and electrolytes; defects of enterocyte differentiation
This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).

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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.

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