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

Demirbilek, HÜSEYİN; Arya, Ved; Ozbek, Mehmet; AKINCI, AYŞEHAN; Dogan, Murat; Demirel, Fatma; Houghton, Jayne; Kaba, Sultan; Guzel, Fatma; Baran, Riza; Unal, Sevim; Tekkes, Selahattin; Flanagan, Sarah; Ellard, Sian; Hussain, Khalid

doi:10.1530/eje-14-0045

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., Dogan M., Demirel F., ...Daha Fazla

EUROPEAN JOURNAL OF ENDOCRINOLOGY, cilt.170, sa.6, ss.885-892, 2014 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 170 Sayı: 6
Basım Tarihi: 2014
Doi Numarası: 10.1530/eje-14-0045
Dergi Adı: EUROPEAN JOURNAL OF ENDOCRINOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.885-892
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Hacettepe Üniversitesi Adresli: Evet

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.