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...
| Published in: | Medicine Science |
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| Main Authors: | , , , , |
| Format: | Article |
| Language: | English |
| Published: |
Society of Turaz Bilim
2017-03-01
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| Subjects: | |
| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=225546 |
| _version_ | 1850127655240728576 |
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| author | Elif Ozsu Cengiz Kara Gulay Can Yilmaz Derya Tepe Murat Aydin |
| author_facet | Elif Ozsu Cengiz Kara Gulay Can Yilmaz Derya Tepe Murat Aydin |
| author_sort | Elif Ozsu |
| collection | DOAJ |
| container_title | Medicine Science |
| description | 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] |
| format | Article |
| id | doaj-art-19efcd05f4d646598ae556c83ffb3dfd |
| institution | Directory of Open Access Journals |
| issn | 2147-0634 |
| language | English |
| publishDate | 2017-03-01 |
| publisher | Society of Turaz Bilim |
| record_format | Article |
| spelling | doaj-art-19efcd05f4d646598ae556c83ffb3dfd2025-08-19T23:53:51ZengSociety of Turaz BilimMedicine Science2147-06342017-03-0161111310.5455/medscience.2016.05.8500225546Transient Neonatal Diabetes with Fanconi Bickel SyndromeElif Ozsu0Cengiz Kara1Gulay Can Yilmaz2Derya Tepe3Murat Aydin4Samsun Obstetrics and Children Hospital Ondokuz Mayis University School of Medicine Department of Pediatric Endocrinology Ondokuz Mayis University School of Medicine Department of Pediatric Endocrinology Yenimahale Training and Reserach Hospital /Ankara Ondokuz Mayis University School of Medicine Department of Pediatric EndocrinologyFanconi- 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]http://www.ejmanager.com/fulltextpdf.php?mno=225546Monogenic diabetesGLUT-2glucosuria |
| spellingShingle | Elif Ozsu Cengiz Kara Gulay Can Yilmaz Derya Tepe Murat Aydin Transient Neonatal Diabetes with Fanconi Bickel Syndrome Monogenic diabetes GLUT-2 glucosuria |
| title | Transient Neonatal Diabetes with Fanconi Bickel Syndrome |
| title_full | Transient Neonatal Diabetes with Fanconi Bickel Syndrome |
| title_fullStr | Transient Neonatal Diabetes with Fanconi Bickel Syndrome |
| title_full_unstemmed | Transient Neonatal Diabetes with Fanconi Bickel Syndrome |
| title_short | Transient Neonatal Diabetes with Fanconi Bickel Syndrome |
| title_sort | transient neonatal diabetes with fanconi bickel syndrome |
| topic | Monogenic diabetes GLUT-2 glucosuria |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=225546 |
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