Congenital hyperinsulinism presenting with different clinical, biochemical and molecular genetic spectra

ŞİMŞEK E., Binay C., Flanagan S. E., Ellard S., Hussain K., Kabukcuoglu S.

TURKISH JOURNAL OF PEDIATRICS, cilt.55, sa.6, ss.584-590, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 55 Sayı: 6
  • Basım Tarihi: 2013
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.584-590
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

Congenital hyperinsulinism (CHI) is a common cause of hypoglycemia in infants. We report three cases of CHI with differing clinical, biochemical, and molecular genetic spectra. One patient was unresponsive to medical treatment and died after subtotal pancreatectomy because of complications due to the surgery. Two patients have been followed successfully with medical treatment. Early diagnosis and appropriate treatment of CHI are essential to prevent morbidity and mortality.