hrp0084p3-1075 | Hypo | ESPE2015

Genetic Causes of Congenital Hyperinsulinism in Slovakia

Stanik Juraj , Valentinova Lucia , Skopkova Martina , Rosolankova Monika , Stanikova Daniela , Ticha Lubica , Gasperikova Daniela , Klimes Iwar

Background: Congenital hyperinsulinism (CHI) is the most common cause of the persistent hypoglycemia in children. Mutations in KCNJ11 and ABCC8 genes coding potassium channel subunits are responsible for a significant proportion of CHI patients. The type of mutation correlates with the type of B-cell hyperplasia (focal or diffuse), and determinates further diagnostics, treatment and prognosis of disorder.Aims and objectives: The aim of ...