Extremely rare cause of congenital diarrhea: Enteric anendocrinosis
PEDIATRICS INTERNATIONAL, cilt.55, sa.5, ss.661-663, 2013 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 55 Sayı: 5
- Basım Tarihi: 2013
- Doi Numarası: 10.1111/ped.12169
- Dergi Adı: PEDIATRICS INTERNATIONAL
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.661-663
- Anahtar Kelimeler: congenital diarrhea, enteric anendocrinosis, enteroendocrine cells, Neurogenin-3, PROGENITOR CELLS, ENDOCRINE, NEUROGENIN-3, FATE
- Çukurova Üniversitesi Adresli: Hayır
Özet
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.