A novel mutation in abcc8 gene in a newborn with congenital hyperinsulinism -A case report
Fetal and Pediatric Pathology, cilt.32, sa.6, ss.412-417, 2013 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 32 Sayı: 6
- Basım Tarihi: 2013
- Doi Numarası: 10.3109/15513815.2013.789947
- Dergi Adı: Fetal and Pediatric Pathology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.412-417
- Anahtar Kelimeler: congenital hyperinsulinism, mutation, newborn
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. The genetic basis of CHI includes a variety of defects in key genes regulating insulin secretion. Mutations in at least seven genes are found in 50% of cases. The most common forms of medically unresponsive CHI, which requires a near-total pancreatectomy are associated with autosomal recessive mutations in the ABCC8 and KCNJ11 genes encoding the two subunits of the pancreatic β-cell ATP-sensitive potassium channel. We report a neonate with CHI and have a novel homozygous splicing mutation in the ABCC8 gene. © 2013 Informa Healthcare USA, Inc.