Ipoglicemia da iperinsulinismo congenito dell'infanzia. Il registro Italiano

Hypoglycaemia is a frequent metabolic disorder in pediatric age particularly in the newborn period, with major consequences on central nervous system. Among the causes of hypoglycaemia are included transient conditions due to metabolic adaptation after birth, inborn errors of metabolism, hormonal disorders. Congenital hyperinsulinism of infancy (CHI), the most frequent cause of persistent hypoglycaemia in children, is due to inappropriate insulin secretion at low blood glucose levels. It is an heterogeneous entity in terms of clinical presentation, genetics and histology. Prompt diagnosis and therapy are necessary to avoid that serious and recurrent hypoglycaemia causes irreversible brain damage. Mutations in 7 different genes can be responsible of CHI; the great majority being mutations of the genes coding for the subunits of ATP sensitive K⁺ channels. Despite major progresses in the understanding of molecular mechanism underlying this condition and in the diagnosis of diffuse versus focal forms, thanks to 18-fluoro DOPA PET, most needs to be done to improve the prognosis of CHI patients. Recently the Italian Registry for Congenital Hyperinsulinism of Infancy has been instituted with the aim of implementing knowledge and management of this rare and complex disease.