New Insights and Perspectives in Congenital Diarrheal Disorders

New Insights and Perspectives in Congenital Diarrheal Disorders Curr Pediatr Rep (2017) 5:156–166 DOI 10.1007/s40124-017-0136-5 GASTROLOGY (S KHAN, SECTION EDITOR) 1 2 2 2 Vincenza Pezzella & Giusi Grimaldi & Mariateresa Russo & Serena Mazza & 2 2 3,4 Domenica Francesca Mariniello & Lorella Paparo & Ausilia Elce & 3,5 2,3,6 Giuseppe Castaldo & Roberto Berni Canani Published online: 15 June 2017 Springer Science + Business Media New York 2017 Abstract diagnostic and therapeutic perspectives. Advances in molecu- Purpose of Review We highlight new entities of congenital lar analysis procedures have modified the diagnostic approach diarrheal disorders (CDDs) and progresses in understanding in CDDs, leading to a reduction in invasive and expensive of functionally related genes, opening new diagnostic and procedures. therapeutic perspectives. Recent Findings The more significant advances have been . . . Keywords Chronic diarrhea Genes Molecular analysis made in field of pathogenesis, encouraging a better under- Mutations Children 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, Introduction severe chronic diarrhea is the main clinical manifestation, but in other cases, diarrhea is only a component of a more Congenital Current Pediatrics Reports Springer Journals

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Medicine & Public Health; Pediatrics
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