title: 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.affiliation: Department of Gynecology-Obstetrics and Perinatal Medicine, University of Rome "La Sapienza", Viale del Policlinico 1, Rome 00161, Italy.
authors.forename: Gianluca
authors.initials: G
authors.lastname: Terrin
authors.affiliation: CEINGE-Advanced Biotechnology, Via Comunale Margherita, Naples 80131, Italy.|Department of Biochemistry and Biotechnology, University of Naples "Federico II", Via Pansini 5, Naples 80131, Italy.|Biotechnology Science, University of Naples "Federico II", Via De Amicis, Naples 80131, Italy.
authors.forename: Rossella
authors.initials: R
authors.lastname: Tomaiuolo
authors.affiliation: Department of Pediatrics, University of Naples "Federico II", Via Pansini 5, Naples 80131, Italy.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Passariello
authors.affiliation: CEINGE-Advanced Biotechnology, Via Comunale Margherita, Naples 80131, Italy.|Department of Biochemistry and Biotechnology, University of Naples "Federico II", Via Pansini 5, Naples 80131, Italy.
authors.forename: Ausilia
authors.initials: A
authors.lastname: Elce
authors.affiliation: CEINGE-Advanced Biotechnology, Via Comunale Margherita, Naples 80131, Italy.|Department of Biochemistry and Biotechnology, University of Naples "Federico II", Via Pansini 5, Naples 80131, Italy.
authors.forename: Felice
authors.initials: F
authors.lastname: Amato
authors.affiliation: Department of Pediatrics, University of Naples "Federico II", Via Pansini 5, Naples 80131, Italy.
authors.forename: Margherita
authors.initials: M
authors.lastname: Di Costanzo
authors.affiliation: CEINGE-Advanced Biotechnology, Via Comunale Margherita, Naples 80131, Italy.|Department of Biochemistry and Biotechnology, University of Naples "Federico II", Via Pansini 5, Naples 80131, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Castaldo
authors.affiliation: Department of Pediatrics, University of Naples "Federico II", Via Pansini 5, Naples 80131, Italy.|European Laboratory for the Investigation of Food Induced Diseases, University of Naples "Federico II", Via Pansini 5, Naples 80131, Italy.
authors.forename: Roberto Berni
authors.initials: RB
authors.lastname: Canani
mesh_terms: D002908:Chronic Disease; D003967:Diarrhea / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics; D004066:Digestive System Diseases / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood; D008286:Malabsorption Syndromes / Q000151:congenital / Q000235:genetics; D025202:Molecular Diagnostic Techniques / Q000379:methods*