Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive K-ATP channel mutations


Demirbilek H., Arya V. B. , Ozbek M. N. , AKINCI A. , Doğan M., Demirel F., ...Daha Fazla

EUROPEAN JOURNAL OF ENDOCRINOLOGY, cilt.170, ss.885-892, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 170 Konu: 6
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1530/eje-14-0045
  • Dergi Adı: EUROPEAN JOURNAL OF ENDOCRINOLOGY
  • Sayfa Sayıları: ss.885-892

Özet

Objective: Congenital hyperinsulinism (CHI) is the commonest cause of hyperinsulinaemic hypoglycaemia in the neonatal, infancy and childhood periods. Its clinical presentation, histology and underlying molecular biology are extremely heterogeneous. The aim of this study was to describe the clinical characteristics, analyse the genotype phenotype correlations and describe the treatment outcome of Turkish CHI patients.