Extremely rare cause of congenital diarrhea: Enteric anendocrinosis

Pediatrics International

Volumn 55, Issue 5, 2013, Pages 661-663

  Sayar, Ersin ^a   Islek, Ali ^a   Yilmaz, Aygen ^a   Akcam, Mustafa ^b   Flanagan, Sarah E ^c   Artan, Reha ^a  

^a AKDENIZ UNIVERSITY   (Turkey)

^b SULEYMAN DEMIREL UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^c UNIVERSITY OF EXETER   (United Kingdom)

Author keywords

congenital diarrhea; enteric anendocrinosis; enteroendocrine cells; Neurogenin 3

Indexed keywords

CHROMOGRANIN A; ELASTASE; NEUROGENIN 3; PANCREAS ENZYME;

ARTICLE; CASE REPORT; CELL DIFFERENTIATION; CONGENITAL DIARRHEAL DISORDER; CONTROLLED STUDY; DEHYDRATION; DIARRHEA; DISEASE SEVERITY; DUODENUM BIOPSY; ENTERIC ANENDOCRINOSIS; ENTERIC FEEDING; ENTEROENDOCRINE CELL; ENTEROPATHY; FECES ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GLUCOSE BLOOD LEVEL; HETEROZYGOTE; HUMAN; INFANT; INTESTINE CELL; LIVER FUNCTION TEST; METABOLIC ACIDOSIS; PARENTERAL NUTRITION; PATHOGENESIS; POLARIZATION; PRIORITY JOURNAL;

CONGENITAL DIARRHEA; ENTERIC ANENDOCRINOSIS; ENTEROENDOCRINE CELLS; NEUROGENIN-3;

BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; BIOPSY; DIAGNOSIS, DIFFERENTIAL; DIARRHEA; DNA; DNA MUTATIONAL ANALYSIS; DUODENUM; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; INTESTINAL MUCOSA; MALABSORPTION SYNDROMES; MUTATION; NERVE TISSUE PROTEINS; RARE DISEASES;

EID: 84886060299     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/ped.12169     Document Type: Article

References (13)

1. Berni Canani R, Terrin G, Cardillo G, Tomaiuolo R, Castaldo G,. Congenital diarrheal disorders: Improved understanding of gene defects is leading to advances in intestinal physiology and clinical management. J. Pediatr. Gastroenterol. Nutr. 2010; 50: 360-366.
2. Wang J, Cortina G, Wu SV, et al. Mutant neurogenin-3 in congenital malabsorptive diarrhea. N. Engl. J. Med. 2006; 355: 270-280. (Pubitemid 44079341)
3. Rubio-Cabezas O, Jensen JN, Hodgson MI, et al. Permanent neonatal diabetes and enteric anendocrinosis associated with biallelic mutations in NEUROG3. Diabetes 2011; 60: 1349-1353.
4. Pinney SE, Oliver-Krasinski J, Ernst L, et al. Neonatal diabetes and congenital malabsorptive diarrhea attributable to a novel mutation in the human Neurogenin-3 gene coding sequence. J. Clin. Endocrinol. Metab. 2011; 96: 1960-1965.
5. Ohsie S, Gerney G, Gui D, Kahana D, Martin MG, Cortina G,. A paucity of colonic enteroendocrine and/or enterochromaffin cells characterizes a subset of patients with chronic unexplained diarrhea/malabsorption. Hum. Pathol. 2009; 40: 1006-1014.
6. Sayar E, Yilmaz A, Islek A, Elpek GO, Flanagan SE, Artan R,. Chromogranin-A staining reveals enteric anendocrinosis in unexplained congenital diarrhea. J. Pediatr. Gastroenterol. Nutr. 2013. doi: 10.1097/MPG. 0b013e3182560f26
7. Fre S, Huyghe M, Mourikis P, Robine S, Louvard D, Artavanis-Tsakonas S,. Notch signals control the fate of immature progenitor cells in the intestine. Nature 2005; 435: 964-968. (Pubitemid 40896323)
8. Jenny M, Uhl C, Roche C, et al. Neurogenin 3 is differentially required for endocrine cell fate specification in the intestinal and gastric epithelium. EMBO J. 2002; 21: 6338-6347. (Pubitemid 35448412)
9. Yang Q, Bermingham NA, Finegold MJ, Zoghbi HY,. Requirement of Math1 for secretory cell lineage commitment in the mouse intestine. Science 2001; 294: 2155-2158. (Pubitemid 33150670)
10. Gradwohl G, Dierich A, LeMeur M, Guillemot F,. Neurogenin3 is required for the development of the four endocrine cell lineages of the pancreas. Proc. Natl Acad. Sci. USA 2000; 97: 1607-1611. (Pubitemid 30118489)
11. Bjerknes M, Cheng H,. Gastrointestinal stem cells. Intestinal stem cells. Am. J. Physiol. Gastrointest. Liver Physiol. 2005; 289: 6381-6387.
12. Oliver-Krasinski JM, Stoffers DA,. On the origin of the β cell. Genes Dev. 2008; 22: 1998-2021.
13. Schonhoff SE, Giel-Moloney M, Leiter AB,. Neurogenin-3-expressing progenitor cells in the gastrointestinal tract differentiate into both endocrine and non-endocrine cell types. Dev. Biol. 2004; 270: 443-454. (Pubitemid 38748564)