Abstract
Permanent neonatal diabetes was previously assumed to require insulin injection or infusion for life. Recently, permanent neonatal diabetes resulting from mutations in the two protein subunits of the adenosine triphosphate-sensitive potassium channel (Kir6.2 and SUR1) has proven to be successfully treatable with high doses of sulfonylureas rather than insulin. Many patients with these mutations first develop hyperglycemia in the nursery or intensive care unit. The awareness of the neonatolgist of this entity can have dramatic effects on the long-term care and quality of life of these patients and their families. In this study, we present the experience of our center, highlighting aspects relevant to neonatal diagnosis and treatment.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$259.00 per year
only $21.58 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Sagen JV, Raeder H, Hathout E, Shehadeh N, Gudmundsson K, Baevre H et al. Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2. Diabetes 2004; 53: 2713–2718.
Pearson ER, Flechtner I, Njolstad PR, Malecki MT, Flanagan SE, Larkin B et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir.2 mutations. N Engl J Med 2006; 355: 467–477.
Murphy R, Ellard S, Hattersley AT . Clinical implications of a molecular genetic classification of monogenic β-cell diabetes. Nature 2008; 4: 200–213.
Hattersley A, Bruining J, Shield J, Njolstad P, Donaghue K . The diagnosis and management of monogenic diabetes in children. Pediatr Diab 2006; 7: 352–360.
Hathout E, Mace J, Bell GI, Njolstad PR . Treatment of hyperglycemia in a 7-year-old child diagnosed with neonatal diabetes. Diab Care 2006; 29: 1458.
Zung A, Glaser B, Nimri R, Zadik Z . Glibenclamide treatment in permanent neonatal diabetes in a large cohort of French patients. Diabetes 2004; 53: 2719–2722.
Codner E, Flanagan S, Ellard S, Garcia H, Hattersley AT . High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation. Diab Care 2005; 28: 758–759.
Khupa J, Edghill EL, Nazim J, Sieradzki J, Ellard S, Hattersley AT et al. The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulfonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R201H mutation. Diabetalogia 2005; 48: 1029–1031.
De León DD, Stanley CA . Permanent neonatal diabetes. In: Pagon RA, Bird TC, Dolan CR, Stephens K (eds). GeneReviews [Internet]. University of Washington: Seattle (WA), 2008.
Bingham C, Hattersley AT . Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1β. Nephrol Dial Transplant 2004; 19: 2703–2708.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
The authors declare no conflict of interest.
Rights and permissions
About this article
Cite this article
Shahawy, S., Chan, N., Ellard, S. et al. A pathway to insulin independence in newborns and infants with diabetes. J Perinatol 31, 567–570 (2011). https://doi.org/10.1038/jp.2011.4
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/jp.2011.4