Mutant neurogenin-3 in a Turkish boy with congenital malabsorptive diarrhea

Pediatrics International

Volumn 58, Issue 5, 2016, Pages 379-382

  Ünlüsoy Aksu, Aysel ^a   Eğritaş Gürkan, Ödül ^a   Sarı, Sinan ^a   Demirtaş, Zeliha ^a   Türkyılmaz, Canan ^a   Poyraz, Aylar ^a   Dalgıç, Buket ^a  

^a GAZI UNIVERSITY FACULTY OF MEDICINE   (Turkey)

Author keywords

cholestyramine; congenital diarrhea; diabetes mellitus; neurogenin 3

Indexed keywords

COLESTYRAMINE;

ARTICLE; CASE REPORT; CONGENITAL DISORDER; DIARRHEA; DISEASE SEVERITY; DRUG EFFICACY; DUODENUM BIOPSY; GENE; GENE MUTATION; GENE SEQUENCE; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERCHLOREMIC ACIDOSIS; MALABSORPTION; MALE; METABOLIC ACIDOSIS; NEUROGENIN 3 GENE; NEWBORN; PRIORITY JOURNAL; TURK (PEOPLE);

EID: 84948823720     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/ped.12783     Document Type: Article

References (11)

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: 360–66.
2. Wang J, Cortina G, Wu SV et al. Mutant neurogenin-3 in congenital malabsorptive diarrhea. N. Engl. J. Med. 2006; 355 (3): 270–80.
3. 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: 1960–65.
4. Rubio-Cabezas O, Jensen JN, Hodgson MI et al. Permanent neonatal diabetes and enteric anendocrinosis associated with biallelic mutations in NEUROG3. Diabetes 2011; 60: 1349–53.
5. Sayar E, Islek A, Yilmaz A, Akcam M, Flanagan SE, Artan R. Extremely rare cause of congenital diarrhea: Enteric anendocrinosis. Pediatr. Int. 2013; 55: 661–3.
6. Bjerknes M, Cheng H. Neurogenin 3 and the enteroendocrine cell lineage in the adult mouse small intestinal epithelium. Dev. Biol. 2006; 300: 722–35.
7. 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: 443–54.
8. Gershon MD. Nerves, reflexes, and the enteric nervous system: Pathogenesis of the irritable bowel syndrome. J. Clin. Gastroenterol. 2005; 39 (5 Suppl3): S184–93.
9. Mellitzer G, Gradwohl G. Enteroendocrine cells and lipid absorption. Curr. Opin. Lipidol. 2011; 22: 171–5.
10. Barkun AN, Love J, Gould M, Pluta H, Steinhart H. Bile acid malabsorption in chronic diarrhea: Pathophysiology and treatment. Can. J. Gastroenterol. 2013; 27: 653–9.
11. Chiang JY. Bile acids: Regulation of synthesis. J. Lipid Res. 2009; 50: 1955–66.