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Pediatr Int. 2016 May;58(5):379-382. doi: 10.1111/ped.12783. Epub 2015 Nov 6.

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

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Department of Pediatric Gastroenterology, Gazi University Medical School, Ankara, Turkey.
Neonatology, Gazi University Medical School, Ankara, Turkey.
Department of Pathology, Gazi University Medical School, Ankara, Turkey.


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.


cholestyramine; congenital diarrhea; diabetes mellitus; neurogenin-3


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