In:
Pediatrics International, Wiley, Vol. 55, No. 5 ( 2013-10), p. 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 N eurogenin‐3 gene. In this report we describe a seventh case with a review of the literature.
Type of Medium:
Online Resource
ISSN:
1328-8067
,
1442-200X
DOI:
10.1111/ped.2013.55.issue-5
Language:
English
Publisher:
Wiley
Publication Date:
2013
detail.hit.zdb_id:
2008621-0
Permalink