title: A novel mutation ofABCC8gene in a patient with diazoxide-unresponsive congenital hyperinsulinism.
abstract: Congenital hyperinsulinism (CHI) is a rare condition that can cause irreversible brain damage during the neonatal period owing to the associated hypoglycemia. Hypoglycemia in CHI occurs secondary to the dysregulation of insulin secretion. CHI has been established as a genetic disorder of islet-cell hyperplasia, associated with a mutation of theABCC8orKCNJ11genes, which encode the sulfonylurea receptor 1 and the inward rectifying potassium channel (Kir6.2) subunit of the ATP-sensitive potassium channel, respectively. We report the case of a female newborn infant who presented with repetitive seizures and episodes of apnea after birth, because of hypoglycemia. Investigations revealed hypoglycemia with hyperinsulinemia, but no ketone bodies, and a low level of free fatty acids. High dose glucose infusion, enteral feeding, and medications could not maintain the patient's serum glucose level. Genetic testing revealed a new variation ofABCC8mutation. Therefore, we report this case of CHI caused by a novel mutation ofABCC8in a half-Korean newborn infant with diazoxide-unresponsive hyperinsulinemic hypoglycemia.
authors.affiliation: Department of Pediatrics, Gyeongsang National Unviersity School of Medicine, Jinju, Korea.
authors.forename: Ji Sook
authors.initials: JS
authors.lastname: Park
authors.affiliation: Department of Pediatrics, Gyeongsang National Unviersity School of Medicine, Jinju, Korea.
authors.forename: Hong-Jun
authors.initials: HJ
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Gyeongsang National Unviersity School of Medicine, Jinju, Korea.
authors.forename: Chan-Hoo
authors.initials: CH
authors.lastname: Park
keywords: ABCC8; Congenital hyperinsulinism; Mutation