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 theminfants that experience birth asphyxia, SGA, premature birth and born to diabetic mother that usually have transient hyperinsulinismresolves quickly, even though it may be quite severe. Hypoglycaemia in CHI occurs secondary to the dysregulation of insulinsecretion. CHI has been established as a genetic disorder of islet cell hyperplasia, associated with a mutation of ABCC8 orKCNJ11 genes, which encode the sulfonylurea receptor 1 and inward rectifying potassium channel (kir6.2) subunit of the ATPsensitivepotassium channel, respectively. A case report of a neonatal persistent refractory hypoglycaemia born to primigravidamother as a result of CHI caused by mutation of ABCC8 gene at a secondary care centre was presented.
展开▼