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