Transient neonatal diabetes with two novel mutations in the KCNJ11 gene and response to sulfonylurea treatment in a preterm infant

ŞIKLAR Z., Ellard S., OKULU E., BERBEROĞLU M., Young E., Erdeve S. S., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.24, sa.11-12, ss.1077-1080, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 24 Sayı: 11-12
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1515/jpem.2011.250
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1077-1080
  • Anahtar Kelimeler: neonatal diabetes, sulfonylurea, therapy, KIR6.2 KCNJ11, CHANNEL GENES, MELLITUS, THERAPY, INSULIN, UPDATE
  • Ankara Üniversitesi Adresli: Evet

Özet

Neonatal diabetes mellitus (NDM) is a rare condition that can be either transient or permanent. K-ATP channel (Kir6.2 or SUR1) mutation, chromosome 6 abnormalities, insulin, or glucokinase gene mutations can lead to isolated NDM. Cases caused by Kir6.2 mutation usually result in permanent NDM (PNDM) rather than transient NDM (TNDM). The majority of patients with the Kir6.2 or SUR1 mutation can be successfully managed with a sulfonylurea agent, without the need for insulin. We report a preterm male with NDM having two novel missense mutations, E322A and D352H, in the KCNJ11 gene. At 2 months of age, successful transition from insulin to glibenclamide (glyburide) therapy of the patient was managed. At 5 months of age, his diabetes went in to remission.