Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Perinatal/Neonatal Case Presentation
  • Published:

Perinatal/Neonatal Case Presentation

Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a novel missense mutation, p.P1199L, in the ABCC8 gene

Journal of Perinatology volume 32, pages 645–647 (2012)Cite this article

Subjects

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

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

References

  1. 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.

    Article  CAS  Google Scholar 

  2. 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.

    Article  CAS  Google Scholar 

  3. 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.

    Article  Google Scholar 

  4. 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.

    Article  CAS  Google Scholar 

  5. 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.

    Article  CAS  Google Scholar 

  6. 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.

    Article  CAS  Google Scholar 

  7. Joshi R, Phatarpekar A . Neonatal diabetes mellitus due to L233F mutation in the KCNJ11 gene. World J Pediatr 2011; 7: 371–372.

    Article  CAS  Google Scholar 

  8. 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.

    Article  Google Scholar 

  9. 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.

    Google Scholar 

  10. 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.

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, Division of Neonatology, Akdeniz University Medical School, Antalya, Turkey

    O Oztekin & S Kalay

  2. Department of Pediatrics, Division of Pediatric Endocrinology, Akdeniz University Medical School, Antalya, Turkey

    E Durmaz & I Bircan

  3. Department of Molecular Genetics, Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, UK

    S E Flanagan & S Ellard

Authors
  1. O Oztekin
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. E Durmaz
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. S Kalay
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. S E Flanagan
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. S Ellard
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. I Bircan
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to O Oztekin.

Ethics declarations

Competing interests

The authors declare no conflict of interest.

Rights and permissions

Reprints 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

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/jp.2012.46

Keywords

This article is cited by

Search

Advanced search

Quick links