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Extremely rare cause of congenital diarrhea: Enteric anendocrinosis
Author(s) -
Sayar Ersin,
Islek Ali,
Yilmaz Aygen,
Akcam Mustafa,
Flanagan Sarah E,
Artan Reha
Publication year - 2013
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12169
Subject(s) - medicine , diarrhea , enteroendocrine cell , enterocyte , pathogenesis , malabsorption , chronic diarrhea , immune system , intestinal disorder , endocrine system , gastroenterology , immunology , disease , small intestine , hormone
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 N eurogenin‐3 gene. In this report we describe a seventh case with a review of the literature.