hrp0082p3-d2-714 | Diabetes (1) | ESPE2014

Case of Family Neonatal Diabetes with KCNJ11 Gene Mutation

Chumak Svitlana , Budreiko Olena , Globa Evgeniy

Background: Neonatal diabetes is a rare pathology occurring in around one in every 200 000–400 000 live births. The most common cause of permanent neonatal diabetes (PNDM) is heterozygous activating mutations in the KCNJ11 gene encoding the pore-forming Kir6.2 subunit of the pancreatic β cell KATP channel.Objective and hypotheses: To determine the dynamic of carbohydrate metabolism in family transferred from insulin to sulphonylureas (...