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 diarrhe
