Mutant neurogenin-3 in a Turkish boy with congenital malabsorptive diarrhea


Aksu A. U. , EĞRİTAŞ GÜRKAN Ö. , SARI S. , Demirtas Z. , TÜRKYILMAZ C. , POYRAZ A. , ...Daha Fazla

Pediatrics International, cilt.58, sa.5, ss.379-382, 2016 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 58 Konu: 5
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1111/ped.12783
  • Dergi Adı: Pediatrics International
  • Sayfa Sayıları: ss.379-382

Özet

© 2015 Japan Pediatric SocietyCongenital diarrheal disorders are caused by disruption in nutrient digestion, absorption, or transport, enterocyte development and functioning, or enteroendocrine functioning. Many additional rare forms of congenital diarrhea are expected to be linked to genes associated with appropriate intestinal fluid and electrolyte balance. Neurogenin-3 mutation, a very rare form of congenital diarrhea, disrupts enteroendocrine cell differentiation and is characterized by malabsorption and the absence of pancreatic islet cells. Diabetes mellitus is typically associated with malabsorptive diarrhea at early onset or at later presentation in neurogenin-3 mutation. Here, we describe the case of an infant with homozygous neurogenin-3 mutation who had severe malabsorptive diarrhea and episodes of hyperchloremic metabolic acidosis after birth. Remarkably, cholestyramine was effective at reducing stool volume and frequency and improved the consistency of the stools; diabetes was not present in this patient.