Refractory Hypoglycaemia- The Need for Genetic Work Up

• Main Authors: Charu Jha, Bhavesh Rathod
• Format: Article
• Language: English
• Published: JCDR Research and Publications Pvt. Ltd. 2020-01-01
• Series: Indian Journal of Neonatal Medicine and Research
• Subjects: abcc8 mutation; congenital hyperinsulinemia of infancy; neonatal hypoglycaemia
• Online Access: http://ijnmr.net/articles/PDF/2262/43831_F(SHU)_CE[Ra1]_KM_PF1(AG_KM)_PFA(SL)_PN(SL).pdf

Congenital Hyperinsulinism of Infancy (CHI) is a rare condition that causes of persistent hypoglycemia refractory to treatment. Neonatal hypoglycaemia is caused by numerous clinical conditions, such as birth asphyxia, Small for Gestation Age (SGA), premature birth, infant of diabetic mother, systemic disorders, and hormonal disorders of fatty acid oxidation disorders. Of them infants that experience birth asphyxia, SGA, premature birth, and born to diabetic mother usually have transient hyperinsulinism that resolves quickly, even though it may be quite severe. Hypoglycaemia 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 ABCC8 or KCNJ11 genes, which encode the sulfonylurea receptor 1 and inward rectifying potassium channel (kir6.2) subunit of the ATP-sensitive potassium channel, respectively. We present a case report of a neonatal persistent refractory hypoglycaemia born to primigravida mother as a result of CHI caused by mutation of ABCC8 gene at a secondary care centre.