P0929 Neonatal Diarrhea: A Multicenter Study

Combined Use of Noninvasive Tests is Useful in the Initial Diagnostic Approach to a Child with Suspected Inflammatory Bowel Disease

“…C ongenital diarrheal disorders (CDD, Online Mendelian Inheritance in Man [OMIM] 251850) are a group of rare chronic enteropathies characterized by a heterogeneous etiology, which in most cases is related to an identified or to an as yet unidentified genetic defect generally inherited as an autosomal recessive trait. CDD represent one of the most challenging clinical conditions for pediatric gastroenterologists because of the severity of the clinical picture and the broad range of conditions in its differential diagnosis (1)(2)(3)(4). In the first weeks of life, patients affected by CDD usually present with severe diarrhea that within a few hours leads to a life-threatening condition secondary to massive dehydration and metabolic acidosis (1).…”

“…Milder forms with subtle clinical signs may remain undiagnosed until adulthood when patients may have developed irreversible complications. The number of conditions included within the CDD group has gradually increased (4)(5)(6). What is now clear is that CDD depend on defects in the structure and function of absorptive, enteroendocrine, or inflammatory cells of the gut, determined by mutations in genes expressed throughout the gastrointestinal tract involving different segments and different cells.…”

“…The conditions included in these 4 groups are reported in Tables 1 to 4. The exact incidence of these disorders remains to be established and differs widely among populations and geographic areas (1,4,5,36). A study from the Italian Society of Pediatric Gastroenterology, Hepatology, and Nutrition estimated that altered modulation of the intestinal immune response and altered enterocyte differentiation and polarization are the most common causes of CDD (37).…”

Congenital Diarrheal Disorders: Improved Understanding of Gene Defects Is Leading to Advances in Intestinal Physiology and Clinical Management

“…Congenital diarrheal disorders (CDD, Online Mendelian Inheritance in Man [OMIM] 251850) are a group of rare chronic enteropathies characterized by a heterogeneous etiology, which in most cases is related to an identified or to an as yet unidentified genetic defect generally inherited as an autosomal recessive trait. CDD represent one of the most challenging clinical conditions for pediatric gastroenterologists because of the severity of the clinical picture and the broad range of conditions in its differential diagnosis (1–4). In the first weeks of life, patients affected by CDD usually present with severe diarrhea that within a few hours leads to a life‐threatening condition secondary to massive dehydration and metabolic acidosis (1).…”

“…The conditions included in these 4 groups are reported in Tables 1 to 4. The exact incidence of these disorders remains to be established and differs widely among populations and geographic areas (1,4,5,36). A study from the Italian Society of Pediatric Gastroenterology, Hepatology, and Nutrition estimated that altered modulation of the intestinal immune response and altered enterocyte differentiation and polarization are the most common causes of CDD (37).…”