Congenital diarrheal disorders: an updated diagnostic approach.

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.

• Authors: Gianluca Terrin, Rossella Tomaiuolo, Annalisa Passariello, Ausilia Elce, Felice Amato, Margherita Di Costanzo, Giuseppe Castaldo, Roberto Berni Canani
• Journal: International journal of molecular sciences (Int J Mol Sci) Vol. 13 Issue 4 Pg. 4168-4185 ( 2012) ISSN: 1422-0067 [Electronic] Switzerland
• PMID: 22605972 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)

Topics

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