Purpose of Review We highlight new entities of congenital diarrheal disorders (CDDs) and progresses in understanding of functionally related genes, opening new diagnostic and therapeutic perspectives. Recent Findings The more significant advances have been made in field of pathogenesis, encouraging a better under- standing not only of these rare diseases but also of more com- mon pathogenetic mechanisms. Summary CDDs represent an evolving group of rare chronic enteropathies with a typical onset early in the life. Usually, severe chronic diarrhea is the main clinical manifestation, but in other cases, diarrhea is only a component of a more complex systemic disease. The number of conditions has gradually increased, and many new genes have been indentified and functionally related to CDDs, opening new diagnostic and therapeutic perspectives. Advances in molecu- lar analysis procedures havemodified the diagnostic approach in CDDs, leading to a reduction in invasive and expensive procedures. Keywords Chronic diarrhea
New Insights and Perspectives in Congenital Diarrheal Disorders / Mazza, Vincenza Pezzella1; Giusi Grimaldi, 2; Mariateresa, Russo2; Serena, ; Domenica Francesca, Mariniello2; Lorella Paparo, 6; BERNI CANANI, Roberto. - In: CURRENT PEDIATRICS REPORTS. - ISSN 2167-4841. - (2017). [10.1007/s40124-017-0136-5]
New Insights and Perspectives in Congenital Diarrheal Disorders
BERNI CANANI, ROBERTO
2017
Abstract
Purpose of Review We highlight new entities of congenital diarrheal disorders (CDDs) and progresses in understanding of functionally related genes, opening new diagnostic and therapeutic perspectives. Recent Findings The more significant advances have been made in field of pathogenesis, encouraging a better under- standing not only of these rare diseases but also of more com- mon pathogenetic mechanisms. Summary CDDs represent an evolving group of rare chronic enteropathies with a typical onset early in the life. Usually, severe chronic diarrhea is the main clinical manifestation, but in other cases, diarrhea is only a component of a more complex systemic disease. The number of conditions has gradually increased, and many new genes have been indentified and functionally related to CDDs, opening new diagnostic and therapeutic perspectives. Advances in molecu- lar analysis procedures havemodified the diagnostic approach in CDDs, leading to a reduction in invasive and expensive procedures. Keywords Chronic diarrheaFile | Dimensione | Formato | |
---|---|---|---|
New insights and perspectives in congenital diarrheal disorders”..pdf
accesso aperto
Tipologia:
Documento in Post-print
Licenza:
Dominio pubblico
Dimensione
607.75 kB
Formato
Adobe PDF
|
607.75 kB | Adobe PDF | Visualizza/Apri |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.