Transient Neonatal Diabetes with Fanconi Bickel Syndrome

Fanconi- Bickel Syndrome (FBS) is a rare glycogen storage disease (GSD) . Transient diabetes is rarely reported with FBS. We describe a patient with FBS diagnosed by diabetes findings and identification of a mutation in the GLUT2. A male infant, from a consanguineous marriage, presented with hype...

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Bibliographic Details
Published in:Medicine Science
Main Authors: Elif Ozsu, Cengiz Kara, Gulay Can Yilmaz, Derya Tepe, Murat Aydin
Format: Article
Language:English
Published: Society of Turaz Bilim 2017-03-01
Subjects:
Monogenic diabetes
GLUT-2
glucosuria
Online Access:http://www.ejmanager.com/fulltextpdf.php?mno=225546
Description
Summary:Fanconi- Bickel Syndrome (FBS) is a rare glycogen storage disease (GSD) . Transient diabetes is rarely reported with FBS. We describe a patient with FBS diagnosed by diabetes findings and identification of a mutation in the GLUT2. A male infant, from a consanguineous marriage, presented with hyperglycemia and urinary system infections at 59 days and was given insulin therapy. At age 3 months, insulin was discontinued. Neonatal diabetes may be a first presentation of infants with FBS. [Med-Science 2017; 6(1.000): 111-3]
ISSN:2147-0634

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