Korean J Pediatr.  2016 Nov;59(Suppl 1):S116-S120. 10.3345/kjp.2016.59.11.S116.

A novel mutation of ABCC8 gene in a patient with diazoxide-unresponsive congenital hyperinsulinism

• Park JS
• Lee HJ
• Park CH

• KMID: 2362271
• DOI: http://doi.org/10.3345/kjp.2016.59.11.S116

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 the ABCC8 or KCNJ11 genes, 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 of ABCC8 mutation. Therefore, we report this case of CHI caused by a novel mutation of ABCC8 in a half-Korean newborn infant with diazoxide-unresponsive hyperinsulinemic hypoglycemia.

Keyword

Congenital hyperinsulinism; ABCC8; Mutation

MeSH Terms

Apnea
Blood Glucose
Brain
Congenital Hyperinsulinism*
Enteral Nutrition
Fatty Acids, Nonesterified
Female
Genetic Testing
Glucose
Humans
Hyperinsulinism
Hyperplasia
Hypoglycemia
Infant, Newborn
Insulin
Ketone Bodies
Parturition
Potassium Channels
Seizures
Fatty Acids, Nonesterified
Glucose
Insulin
Ketone Bodies
Potassium Channels