hrp0089p2-p181 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Clinical characteristics of Congenital Hyperinsulinism Caused by Dominant KCNJ11/ABCC8 Mutations

Melikyan Maria , Gubaeva Diliara , Tyulpakov Anatoliy , Kareva Maria

Congenital hyperinsulinism (HI) is the most common cause of hypoglycemia in children and infants. It is characterized by a dysregulation of insulin secretion from pancreatic β-cells and mostly associated with recessive inactivating mutations in the β-cell ATP-sensitive potassium (KATP) channel genes – KCNJ11 and ABCC8. Dominantly inherited mutations in these genes are usually associated with mild forms of diazoxide responsive HI. Rec...