Publication Date:
2012
Short description:
Congenital diarrheal disorders: an updated diagnostic approach / G., Terrin; Tomaiuolo, Rossella; Passariello, Annalisa; A., Elce; Amato, Felice; M., Di Costanzo; Castaldo, Giuseppe; BERNI CANANI, Roberto. - In: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. - ISSN 1422-0067. - 13:4(2012), pp. 4168-4185. [10.3390/ijms13044168]
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
Iris type:
1.1 Articolo in rivista
Keywords:
molecular analysis; osmotic diarrhea; secretory diarrhea; defects of digestion; absorption and transport of nutrients and electrolytes; defects of enterocyte differentiation and polarization; defects of enteroendocrine cells differentiation; defects of modulation of intestinal immune response
List of contributors:
G., Terrin; Tomaiuolo, Rossella; Passariello, Annalisa; A., Elce; Amato, Felice; M., Di Costanzo; Castaldo, Giuseppe; BERNI CANANI, Roberto
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