Permanent neonatal diabetes caused by a novel mutation in the INS gene

Catli G., ABACI A., Flanagan S. E., Anik A., Ellard S., BÖBER E.

DIABETES RESEARCH AND CLINICAL PRACTICE, cilt.99, sa.1, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 99 Sayı: 1
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1016/j.diabres.2012.10.009
  • Dergi Adı: DIABETES RESEARCH AND CLINICAL PRACTICE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: Neonatal diabetes mellitus, INS gene, Insulin, INSULIN GENE, MELLITUS
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Neonatal diabetes mellitus (DM) is a rare condition that can be either transient or permanent. In this case report, we describe a novel mutation (p.L30Q) in the INS gene resulting in permanent DM in a four-month-old female who presented with polyphagia, polyuria, irritability, and hyperglycemia with glucosuria and ketonuria without acidosis. (C) 2012 Elsevier Ireland Ltd. All rights reserved.