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

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Oztekin O., Durmaz E., Kalay S., Flanagan S. E., Ellard S., Bircan I.

JOURNAL OF PERINATOLOGY, cilt.32, sa.8, ss.645-647, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 32 Sayı: 8
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1038/jp.2012.46
  • Dergi Adı: JOURNAL OF PERINATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.645-647
  • Anahtar Kelimeler: newborn, diabetes mellitus, genetic mutation, sulfonylurea
  • Akdeniz Üniversitesi Adresli: Evet

Özet

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. Journal of Perinatology (2012) 32, 645-647; doi: 10.1038/jp.2012.46