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Pediatr Int. 2013 Oct;55(5):661-3. doi: 10.1111/ped.12169.

Extremely rare cause of congenital diarrhea: enteric anendocrinosis.

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Department of Pediatric Gastroenterology, Akdeniz University Faculty of Medicine, Antalya, Turkey.


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.


Neurogenin-3; congenital diarrhea; enteric anendocrinosis; enteroendocrine cells

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