New Insights and Perspectives in Congenital Diarrheal Disorders


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 understanding not only of these rare diseases but also of more common pathogenetic mechanisms.


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 molecular analysis procedures have modified the diagnostic approach in CDDs, leading to a reduction in invasive and expensive procedures.

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Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Correspondence to Roberto Berni Canani.

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Conflict of Interest

Vincenza Pezzella, Giusi Grimaldi, Mariateresa Russo, Serena Mazza, Domenica Francesca Mariniello, Lorella Paparo, Ausilia Elce, Giuseppe Castaldo, and Roberto Berni Canani each declare no potential conflicts of interest.

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Pezzella, V., Grimaldi, G., Russo, M. et al. New Insights and Perspectives in Congenital Diarrheal Disorders. Curr Pediatr Rep 5, 156–166 (2017).

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  • Chronic diarrhea
  • Genes
  • Molecular analysis
  • Mutations
  • Children