UPDATE CLINICAL REVIEW
Congenital diarrheal disorders: an updated clinical review
Lavinia Di Meglio1,2, Annamaria Iannicelli1, Roberto Berni Canani1,3
1Dipartimento di Scienze Mediche Traslazionali, Università degli Studi di Napoli Federico II, Napoli, Italia 2Diagnostica ecografica e prenatale A. Di Meglio, Napoli, Italia 3CEINGE Biotecnologie Avanzate, Università degli Studi
Congenital diarrheal disorders (CDDs) are a group of rare chronic enteropathies, with a typical onset early in life. In many of these conditions, severe chronic diarrhea represents the primary clinical manifestation, whereas in others diarrhea is only a component of a more complex multi-organ disease. The genetic inheritance, the phenotype and the pathophysiology are different for each disorder. CDDs could represent life-threatening conditions since, if not diagnosed promptly, they can lead to massive loss of water and severe electrolyte imbalance. In the last year, thanks to the evolving technologies and knowledge in this field the number of the genetically determined diseases has raised. Here we provide an updated clinical review of CDDs with 27 novel diseases that have been reported in the last decade.