AB110. Genotype and phenotype of 107 patients with congenital hyperinsulinism

摘要

BackgroundHyperinsulinemic hypoglycemia (HH) is a consequence of unregulated insulin secretion by pancreatic β-cell. Congenital HH is caused by mutations in genes involved in regulation of insulin secretion (ABCC8, KCNJ11, GLUD1, CGK, HADH, SLC16A1, HNF1A, HNF4A and UCP2). Severe forms of congenital HH are caused by inactivating mutations in ABCC8 and KCNJ11, which encode the two components of the pancreatic β-cell ATP-sensitive potassium channel. Objectives: Our aim is to identify mutations in the ABCC8 and KCNJ11, HNF4A and GLUD genes, and to describe genotype and phenotype correlations of Vietnamese children with congenital HH.