Extremely rare cause of congenital diarrhea: Enteric anendocrinosis
PEDIATRICS INTERNATIONAL, vol.55, no.5, pp.661-663, 2013 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 55 Issue: 5
- Publication Date: 2013
- Doi Number: 10.1111/ped.12169
- Journal Name: PEDIATRICS INTERNATIONAL
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.661-663
- Keywords: congenital diarrhea, enteric anendocrinosis, enteroendocrine cells, Neurogenin-3, PROGENITOR CELLS, ENDOCRINE, NEUROGENIN-3, FATE
- Akdeniz University Affiliated: Yes
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.