New Insights and Perspectives in Congenital Diarrheal Disorders

Abstract

Purpose of Review We highlight new entities of congenital\ud diarrheal disorders (CDDs) and progresses in understanding\ud of functionally related genes, opening new diagnostic and\ud therapeutic perspectives.\ud Recent Findings The more significant advances have been\ud made in field of pathogenesis, encouraging a better under-\ud standing not only of these rare diseases but also of more com-\ud mon pathogenetic mechanisms.\ud Summary CDDs represent an evolving group of rare chronic\ud enteropathies with a typical onset early in the life. Usually,\ud severe chronic diarrhea is the main clinical manifestation,\ud but in other cases, diarrhea is only a component of a more\ud complex systemic disease. The number of conditions has\ud gradually increased, and many new genes have been indentified and functionally related to CDDs, opening new\ud diagnostic and therapeutic perspectives. Advances in molecu- \ud lar analysis procedures havemodified the diagnostic approach \ud in CDDs, leading to a reduction in invasive and expensive \ud procedures.\ud Keywords Chronic diarrhe

Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature

“…However according to the data, HSCT did not cure SD/THE, except possibly for the immune defects, but is associated with high mortality (2/4). Thus SD/THE is clearly different from defects in intestinal immune-related homeostasis like immunodysregulation polyendocrinopathy enteropathy, X-linked (IPEX) or IPEX-like disorders where either immunosuppressant drugs or HSCT could be useful (36).…”

Apoptotic enteropathy, gluten intolerance, and IBD-like inflammation associated with lipotoxicity in DGAT1 deficiency–related diarrhea: a case report of a 17-year-old patient and literature review

“…Congenital diarrheal disorders (CDDs) include defects in digestion and absorption, enterocyte structure, neuroendocrine differentiation and intestinal immune homeostasis [8]. Deficiencies in digestion and absorption of carbohydrates, proteins or fat account for the majority of CDDs [3,8]. DGAT1-related diarrhea, an autosomal recessive disorder first described in 2012, impairs triglyceride absorption [6,8].…”

“…Deficiencies in digestion and absorption of carbohydrates, proteins or fat account for the majority of CDDs [3,8]. DGAT1-related diarrhea, an autosomal recessive disorder first described in 2012, impairs triglyceride absorption [6,8]. DGATs (acyl CoA:diacylglycerol acyltransferases) convert diacylglycerides to triglycerides by adding an acyl-CoA moiety, a crucial and final step in triacylglycerol synthesis.…”

"Molecular Screening of Chronic Diarrhea: A 2-Year Single-Center Experience"

“…CDDs are rare, mostly autosomal recessive inherited enteropathies that typically early onset with varying severity and prognostic features [5]. In the etiology of CDDs which are associated with high risk of mortality and morbidity; Over 30 CDD disordes and 35 responsible genes have been identified that cause defects in nutrients and electrolytes digestion, absorption, enterocyte structures, intestinal immunerelated homeostasis and enteroendocrine cell development [6].…”