ABCC8 encodes the sulfonylurea receptor 1 (SUR1) subunits of the beta-cell ATP-sensitive potassium (K-ATP) channel playing a critical role in the regulation of insulin secretion, and inactivating mutations in ABCC8 cause congenital hyperinsulinism. Recently, ABCC8 inactivating mutations were reported to be involved in the development of diabetes mellitus later in life. We report a girl who was ...

Congenital hyperinsulinism is a condition of dysregulated insulin secretion often caused by inactivating mutations of the ATP-sensitive K+ (KATP) channel in the pancreatic beta cell. Though most disease-causing mutations of the 2 genes encoding KATP subunits, ABCC8 (SUR1) and KCNJ11 (Kir6.2), are recessively inherited, some cases of dominantly inherited inactivating mutations have been reported...

UNLABELLED Hyperinsulinism secondary to peripheral insulin resistance has been described as the most frequent etiologic factor in cochlear and vestibular syndromes. AIM This experimental study recorded and analyzed evoked auditory potential changes using transtympanic electrocochleography (EcochG) during induced acute hyperinsulinism in an animal model. MATERIALS AND METHODS Six adult male ...

OBJECTIVE The combination of persistent hyperammonemia and hypoketotic hypoglycemia in infancy presents a diagnostic challenge. Investigation of the possible causes and regulators of the ammonia and glucose disposal may result in a true diagnosis and predict an optimum treatment. PATIENT Since the neonatal period, a white girl had been treated for hyperammonemia and postprandial hypoglycemia ...

The mechanisms involved in the release of glucagon in response to hypoglycemia are unclear. Proposed mechanisms include the activation of the autonomic nervous system via glucose-sensing neurons in the central nervous system, via the regulation of glucagon secretion by intra-islet insulin and zinc concentrations, or via direct ionic control, all mechanisms that involve high-affinity sulfonylure...

Hyperinsulinaemic hypoglycaemia is a cause of persistent hypoglycaemia in the neonatal and infancy periods. Prompt recognition and management of patients with hyperinsulinaemic hypoglycaemia are essential, if brain damage and long-term neurological sequelae are to be avoided. Hyperinsulinaemic hypoglycaemia can be transient, prolonged, or persistent (congenital). Advances in the fields of molec...

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...

Spontaneous asymptomatic intrahepatic portosystemic shunt is a rare anomaly of the hepatic vasculature. The main clinical manifestations may be encephalopathy, bleeding or hyperinsulinism, due to constant shedding blood. This article presents case an congenital shunt, found in patient I., aged 25, with results various imaging methods, as well analysis types described vascular anomaly.

Shortly after Banting and Best's discovery of insulin (1), Harris (10) in 1924, on the basis of cases of hypoglycemia with symptoms similar to those of insulin shock and relievable by feeding, postulated the occurrence of spontaneous " hyperinsulinism " as opposed to the " hypoinsulinism " of diabetes. The first verification of this hypothesis appeared in 1927 in a report by Wilder, Allan, Powe...

Congenital hyperinsulinism (HI) is a clinically and genetically heterogeneous entity. The clinical heterogeneity is manifested by severity ranging from extremely severe, life threatening disease to very mild clinical symptoms, which may even be difficult to identify. Furthermore, clinical responsiveness to medical and surgical management is extremely variable. Recent discoveries have begun to c...