Transient Neonatal Diabetes with Fanconi Bickel Syndrome
Elif Ozsu, Cengiz Kara, Gulay Can Yilmaz, Derya Tepe, Murat Aydin
DOI: 10.5455/medscience.2016.05.8500 · Page: 111-3 · 66 Views · 0 Downloads · 0 Citations
Abstract
Abstract
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.
Keywords : Monogenic diabetes; GLUT-2; glucosuria