Genetic pathogenesis and current trends in diagnosis and therapy of ATP-sensitive potassium channel conge-nital hyperinsulinism

ATP-sensitive potassium channel congenital hyperinsulinism(KATP-HI) is the most common and most severe type of congenital hyperinsulinism, accounting for 40%-45%.It is due to the inactivating mutations of the ABCC8 and KCNJ11 gene which encode the ATP-sensitive potassium channel.Diazoxide is the main and preferred therapy for KATP-HI.For KATP-HI children who are unresponsive to medical therapy usually need different degrees of pancreatectomy to maintain normal blood sugar level. Key words: Congenital hyperinsulinism; ATP-sensitive potassium channel; Diazoxide; Pancreatectomy