Abstract
Permanent neonatal diabetes mellitus is a rare disorder known to be caused by activating mutations in KCNJ11 or ABCC8, inactivating mutations in INS, or very rarely in GCK or insulin promotor factor-1 (IPF-1) genes. We report a patient with permanent neonatal diabetes mellitus and severe exocrine pancreatic insufficiency. Ultrasound examination revealed pancreatic agenesis with a suggestion of a small amount of tissue in the head of the pancreas. Genetic testing revealed that the neonate had a homozygous Pro63fsX60 IPF-1 mutation. This is the second reported case of neonatal diabetes mellitus secondary to a homozygous mutation in the IPF-1 gene and supports the previously proposed biological role of IPF-1 in the pancreatic development in human.
Original language | English |
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Pages (from-to) | 492-496 |
Number of pages | 5 |
Journal | Pediatric Diabetes |
Volume | 10 |
Issue number | 7 |
DOIs | |
State | Published - Nov 2009 |
Keywords
- IPF-1
- Neonatal diabetes
- Pancreatic agenesis