Neonatal diabetes mellitus

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Aydin M., Zenciroglu A., AYCAN Z., Cetinkaya S., Hakan N., Okumus N., ...Daha Fazla

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, cilt.47, sa.2, ss.137-140, 2012 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 47 Sayı: 2
  • Basım Tarihi: 2012
  • Doi Numarası: 10.4274/tpa.190
  • Dergi Adı: TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.137-140
  • Anahtar Kelimeler: ATP-sensitive potassium channel, genetic testing, insulin, neonatal diabetes mellitus, sulfonylurea, GENE-MUTATIONS
  • Ankara Üniversitesi Adresli: Hayır

Özet

Neonatal diabetes is a monogenic disease causing cellular and functional defects in pancreatic beta-cells seen at first six months of life. It has an estimated prevalence of 1 in 400 000-500 000 live births. Mutations in KCNJ11, ABCC8, and INS are the cause of neonatal diabetes mellitus in about 50% of patients. We present a rare case of neonatal diabetes mellitus in the light of literature. A 32-day-old male infant born at 37th weeks of gestation with a 1400 g birth weight was referred us because of the persistent hyperglycemia. The patient presented with decreased subcutaneous adipose tissue whose body weight was 1460 g, bilateral criptorchidism and micropenis, and also III/VI degrees systolic murmur in the mesocardiac region. On laboratory investigations; blood glucose levels were high (340-431 mg/dL), serum and urine ketone were negative; insulin and C-peptid levels were low (<2 mU/mL and <0.1 ng/ml, respectively); anti-insulin, anti-islet cell and anti-glutamic acid decarboxylase antibodies were negative. Despite the regulation of diet and insulin therapy a good glucose control couldn't be achieved, and he died on 83rd postnatal day because of an overwhelming infection. (Turk Arch Ped 2012; 47: 137-40)