UCLA

Key PointsCongenital diarrhoeal disorders (CDDs) are a group of rare inherited enteropathies with a typical onset early in the lifeThese disorders are challenging clinical conditions because of the severity of the clinical picture and the broad range of diseases in differential diagnosisTo simplify the approach to these conditions, a classification in four groups according to the main pathogenetic mechanism has been proposedThe number of conditions included within the CDDs group has gradually increased, and many new genes have been identified, opening new diagnostic and therapeutic perspectivesClinically actionable molecular methods to diagnosis CDDs, and other monogenic disorders, have markedly improved in recent yearsContinued research is focused on identifying novel CDDs, and to define in detail the pathogenesis of established disorders that might provide novel therapeutic options to ameliorate morbidity and mortality