A novel activating ABCC8 mutation underlying neonatal diabetes mellitus in an infant presenting with cerebral sinovenous thrombosis

Anik A., Catli G., ABACI A., YİŞ U., ÖREN H., GÜLERYÜZ UÇAR H., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.27, ss.533-537, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 27
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1515/jpem-2013-0263
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.533-537
  • Anahtar Kelimeler: ABCC8 gene, cerebral venous sinus thrombosis, neonatal diabetes mellitus, CHILDREN, MARKERS
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Neonatal diabetes mellitus is a rare clinical condition, which develops most commonly secondary to mutations in KCNJ11 and ABCC8 genes encoding ATP-sensitive K+ channels. Patients are typically diagnosed with hyperglycemia-related symptoms in the first 6 months of life and rarely with ketoacidosis. In this article, we report an infant who presented with focal clonic convulsion and thereafter was diagnosed with neonatal diabetes mellitus and thrombi in cerebral venous sinus. In this patient, after a molecular analysis of the ABCC8 gene revealed a novel heterozygous missense mutation (p.D424V), a successful transition from insulin to sulfonylurea treatment was made.