Ruolo dell’analisi molecolare nel bambino con sospetta diarrea congenita

Vincenza Pezzella, Roberto Berni Canani

Dipartimento di Medicina Traslazionale - Sezione Pediatrica, Laboratorio Europeo per lo Studio delle Malattie Indotte da Alimenti (ELFID), Università degli Studi di Napoli "Federico II”

A cura di Osvaldo Borrelli

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. New entities were also presented.

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