ESPE Abstracts

Background: Congenital hyperinsulinism of infancy (CHI) mainly arises from loss-of-function mutations in the KATP channel genes. As a consequence, insulin release is uncontrolled and causes persistent or recurrent episodes of hypoglycaemia in neonates. In patients with diffuse-CHI (CHI-D) increased rates of cell proliferation has been reported, but the causes of proliferation are unknown.Objective/Hypotheses: To assess the extent of cell proliferation an...

Background/hypothesis: Congenital hyperinsulinism in infancy (CHI) mainly arises from mutations in ATP-sensitive potassium channel genes. However, the expression pattern of defects can be markedly diverse. In diffuse CHI (CHI-D) all islet cells express gene defects, whereas patients with focal CHI (CHI-F) only express defects in a localised region of islet cells due to loss of a maternally-imprinted locus. Here, we examined the properties of a novel population of CHI islet cel...