hrp0086p1-p474 | Fat Metabolism and Obesity P1 | ESPE2016
Piona Claudia
, Maines Evelina
, Baggio Laura
, Gugelmo Giorgia
, Cavarzere Paolo
, Bordugo Andrea
, Gaudino Rossella
Background: Congenital hyperinsulinism (CHI; MIM #256450) is the most common cause of persistent hypoglycaemia in children. Recessive inactivating mutations in KATP channel subunits, encoded by ABCC8 and KCNJ11 genes, are the most common cause of CHI. Mutations of these genes usually cause forms of CHI which in the vast majority of patients are unresponsive to first line medical treatment with diazoxide. Multiple daily standard octreotide injections combine...