Introduction. Congenital hyperinsulinism (HI) is a hereditary disease characterized by inadequate insulin hypersecretion pancreatic beta-cells and leading to hypoglycemia. The prevalence of HI in European countries on average 1:30,000 - 1:50,000 live births. Despite its low prevalence, one the main causes persistent hypoglycemia children first year life.The aim study demonstrate current clinica...

Glucokinase hyperinsulinism is a rare variant of congenital hyperinsulinism caused by activating mutations in the glucokinase gene and has been reported so far to be a result of overactivity of glucokinase within the pancreatic beta-cell. Here we report on a new patient with difficulties to diagnose persistent hyperinsulinism and discuss diagnostic procedures of this as well as the other report...

OBJECTIVES To assess the accuracy of 18F-fluoro-L-dihydroxyphenylalanine ([18F]-DOPA) PET scans to diagnose focal versus diffuse disease and to localize focal lesions in infants with congenital hyperinsulinism. STUDY DESIGN Twenty-four infants with hyperinsulinism unresponsive to medical therapy were studied. Patients were injected intravenously with [18F]-DOPA, and PET scans were obtained fo...

Background: Diazoxide is the main therapeutic agent for congenital hyperinsulinism. The drug is generally well tolerated; however, in this report severe adverse effects including heart failure (HF) and pulmonary hypertension (PH) in an infant are reported.Case report: A sixteen-day male infant with persistent hypoglycemia and with diagnosis of congenital hyperinsulinism underwent near total pan...

background: diazoxide is the main therapeutic agent for congenital hyperinsulinism. the drug is generally well tolerated; however, in this report severe adverse effects including heart failure (hf) and pulmonary hypertension (ph) in an infant are reported.case report: a sixteen-day male infant with persistent hypoglycemia and with diagnosis of congenital hyperinsulinism underwent near total pan...

INTRODUCTION Congenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell's function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism. Mutations in ABCC8 gene are the most common cause o...

Congenital hyperinsulinism (CHI) is a complex heterogeneous condition in which insulin secretion from pancreatic β-cells is unregulated and inappropriate for the level of blood glucose. The inappropriate insulin secretion drives glucose into the insulin-sensitive tissues, such as the muscle, liver and adipose tissue, leading to severe hyperinsulinaemic hypoglycaemia (HH). At a molecular level, ...