Abstract
Neonatal/infancy-onset diabetes mellitus is a monogenic form of diabetes with onset within 6 months of age. Two distinct types of neonatal diabetes mellitus have been recognized: permanent and transient. Mutations within the K+ATP channel and insulin genes are found in most patients with permanent diabetes mellitus. There have been several reports of the successful transition from insulin to sulfonylurea agents in patients with permanent diabetes mellitus caused by mutations in the KCNJ11 gene. We report on a term female neonate with a novel missense mutation, p.P1199L, in the ABCC8 gene that encodes the sulfonylurea receptor 1 whose treatment was successfully converted from insulin to sulfonylurea.
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
Slingerland AS, Shields BM, Flanagan SE, Bruining GJ, Noordam K, Gach A et al. Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260 000 live births. Diabetologia 2009; 52: 1683–1685.
Flechtner I, Vaxillaire M, Cave H, Scharfmann R, Froguel P, Polak M . Neonatal hyperglycaemia and abnormal development of the pancreas. Best Pract Res Clin Endocrinol Metab 2008; 22: 17–40.
Wiedemann B, Schober E, Waldhoer T, Koehle J, Flanagan SE, Mackay DJG et al. Incidence of neonatal diabetes in Austria–calculation based on the Austrian Diabetes Register. Pediatr Diab 2010; 11: 18–23.
Flanagan SE, Patch AM, Mackay DJ, Edghill EL, Gloyn AL, Robinson D et al. Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes 2007; 56: 1930–1937.
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 Kir6.2 mutations. N Engl J Med 2006; 355: 467–477.
Jesic MM, Jesic MD, Maglajlic S, Sajic S, Necic S . Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a new KCNJ11 mutation. Diab Res Clin Pract 2011; 91: e1–e3.
Joshi R, Phatarpekar A . Neonatal diabetes mellitus due to L233F mutation in the KCNJ11 gene. World J Pediatr 2011; 7: 371–372.
Woolley SL, Saranga S . Neonatal diabetes mellitus: A rare but important diagnosis in the critically ill infant. Eur J Emerg Med 2006; 13: 349–351.
Abacỳ A, Razi CA, Ozdemir O, Hỳzlỳ S, Kỳlsal F, Agras PI et al. Neonatal diabetes mellitus accompanied by diabetic ketoacidosis and mimicking neonatal sepsis: A case report. J Clin Res Ped Endo 2010; 2: 131–133.
Russo L, Lafusco D, Brescianini S, Nocerino V, Bizzarri C, Toni S et al. the ISPED early diabetes study group. Permanent diabetes during the first year of life: multiple gene screening in 54 patients. Diabetologia 2011; 54: 1693–1701.
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
Oztekin, O., Durmaz, E., Kalay, S. et al. Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a novel missense mutation, p.P1199L, in the ABCC8 gene. J Perinatol 32, 645–647 (2012). https://doi.org/10.1038/jp.2012.46
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/jp.2012.46
Keywords
This article is cited by
-
Meglitinide (repaglinide) therapy in permanent neonatal diabetes mellitus: two case reports
Journal of Medical Case Reports (2021)