Referenced in: none

Automatically associated channels: Kir1.1 , Kir6.2

Title: Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation.

Authors: Dana Khoriati, Ved Bhushan Arya, Sarah E Flanagan, Sian Ellard, Khalid Hussain

Journal, date & volume: BMJ Case Rep, 2013 , 2013,

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/23563683

Abstract
Congenital hyperinsulinism (CHI) is a rare cause of hyperinsulinaemic hypoglycaemia (HH) and is due to an inappropriate secretion of insulin by the pancreatic β-cells. Genetic defects in key genes lead to dysregulated insulin secretion and consequent hypoglycaemia. Mutations in the genes ABCC8/KCNJ11, encoding SUR1/Kir6.2 components of the K(ATP) channels, respectively, are the commonest cause of CHI. A 33(+6) week gestation male infant weighing 3.38 kg (above 90th centile) presented with severe neonatal symptomatic hypoglycaemia. He required a glucose infusion rate of 20 mg/kg/min to maintain normoglycaemia (blood glucose levels at >3.5 mmol/l). Investigations established the diagnosis of HH (blood glucose 2.2 mmol/l with simultaneous insulin of 97.4 mU/l). Subsequent molecular genetic studies identified a heterozygous pathogenic ABCC8 missense mutation, p.R1353H (c.4058G>A), inherited from an unaffected mother. His HH was diazoxide responsive and resolved within 3 months of life.