Menü Kapat

Case Report

Transient Neonatal Diabetes with Fanconi Bickel Syndrome

Elif Ozsu, Cengiz Kara, Gulay Can Yilmaz, Derya Tepe, Murat Aydin


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.

Key words: Monogenic diabetes, GLUT-2, glucosuria

Med-Science. 2017; 6(1): 111-3

Medicine Science Vol:6 Issue:1 Year:2017 PP:1-181
Posted in Vol: 6 Issue: 1 Year: 2017 March pp: 1–181

Related Posts

%d blogcu bunu beğendi: