Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potasium channel in the pancreatic beta cell

Ocal G., Flanagan S. E., Hacihamdioglu B., BERBEROĞLU M., ŞIKLAR Z., Ellard S., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.24, sa.11-12, ss.1019-1023, 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.2011.347
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1019-1023
  • Anahtar Kelimeler: congenital hyperinsulinism, K-ATP channel, mutation, DIABETES-MELLITUS, ABCC8, HYPOGLYCEMIA, KCNJ11, MECHANISMS
  • Ankara Üniversitesi Adresli: Evet

Özet

Background: Recessive mutations in ABCC8/KCNJ11 of beta-cell K-ATP channel generally cause severe medically unresponsive hyperinsulinemic hypoglycemia (HH). Rarer dominant mutations in these genes have been described that mostly cause milder, medically responsive congenital hyperinsulinism. Rarer dominant mutations in these genes have been described that mostly cause milder, medically responsive congenital hyperinsulinism. To date the phenotype of patients with dominant mutations seems to be different from those with recessive mutations as the majority of patients are responsive to diazoxide therapy. Controversy exists on whether these dominant ABCC8 or KCNJ11 genes mutations predispose to diabetes mellitus in adulthood or not.