Extremely rare cause of congenital diarrhea: Enteric anendocrinosis


Sayar E., Islek A., YILMAZ A., AKÇAM M. , Flanagan S. E. , ARTAN R.

PEDIATRICS INTERNATIONAL, vol.55, no.5, pp.661-663, 2013 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 55 Issue: 5
  • Publication Date: 2013
  • Doi Number: 10.1111/ped.12169
  • Title of Journal : PEDIATRICS INTERNATIONAL
  • Page Numbers: pp.661-663

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.