title: Extremely rare cause of congenital diarrhea: enteric anendocrinosis.
abstract: Congenital diarrheal disorders consist of a variety of chronic enteropathies. There are approximately 30 different diseases that can be classified into four groups according to the mechanisms involved in pathogenesis: (i) absorption and transport of nutrients and electrolytes; (ii) enterocyte differentiation and polarization; (iii) enteroendocrine cell differentiation; and (iv) modulation of the intestinal immune response. Affected patients often present with life-threatening diarrhea, in the first few weeks of life. A new disorder, enteric anendocrinosis, which is characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells has recently been described in six patients with recessively inherited mutations in the Neurogenin-3 gene. In this report we describe a seventh case with a review of the literature.
authors.affiliation: Department of Pediatric Gastroenterology, Akdeniz University Faculty of Medicine, Antalya, Turkey.
authors.forename: Ersin
authors.initials: E
authors.lastname: Sayar
authors.forename: Ali
authors.initials: A
authors.lastname: Islek
authors.forename: Aygen
authors.initials: A
authors.lastname: Yilmaz
authors.forename: Mustafa
authors.initials: M
authors.lastname: Akcam
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Flanagan
authors.forename: Reha
authors.initials: R
authors.lastname: Artan
mesh_terms: D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics* / Q000378:metabolism; D001706:Biopsy; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D003967:Diarrhea / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D004386:Duodenum / Q000473:pathology; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007413:Intestinal Mucosa / Q000473:pathology*; D008286:Malabsorption Syndromes / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D035583:Rare Diseases
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D004247:DNA; D009419:Nerve Tissue Proteins; C498695:NEUROG3 protein, human
keywords: Neurogenin-3; congenital diarrhea; enteric anendocrinosis; enteroendocrine cells