title: Mutant neurogenin-3 in a Turkish boy with congenital malabsorptive diarrhea.
abstract: Congenital 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.
authors.affiliation: Department of Pediatric Gastroenterology, Gazi University Medical School, Ankara, Turkey.
authors.forename: Aysel
authors.identifier: http://orcid.org/0000-0002-4550-0717
authors.initials: A
authors.lastname: Ünlüsoy Aksu
authors.affiliation: Department of Pediatric Gastroenterology, Gazi University Medical School, Ankara, Turkey.
authors.forename: Ödül
authors.initials: Ö
authors.lastname: Eğritaş Gürkan
authors.affiliation: Department of Pediatric Gastroenterology, Gazi University Medical School, Ankara, Turkey.
authors.forename: Sinan
authors.initials: S
authors.lastname: Sarı
authors.affiliation: Department of Pediatric Gastroenterology, Gazi University Medical School, Ankara, Turkey.
authors.forename: Zeliha
authors.initials: Z
authors.lastname: Demirtaş
authors.affiliation: Neonatology, Gazi University Medical School, Ankara, Turkey.
authors.forename: Canan
authors.initials: C
authors.lastname: Türkyılmaz
authors.affiliation: Department of Pathology, Gazi University Medical School, Ankara, Turkey.
authors.forename: Aylar
authors.initials: A
authors.lastname: Poyraz
authors.affiliation: Department of Pediatric Gastroenterology, Gazi University Medical School, Ankara, Turkey.
authors.forename: Buket
authors.initials: B
authors.lastname: Dalgıç
keywords: cholestyramine; congenital diarrhea; diabetes mellitus; neurogenin-3