Hyperinsulinemic hypoglycemia of infancy. Recent insights into ATP-sensitive potassium channels, sulfonylurea receptors, molecular mechanisms, and treatment.
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI), previously termed "nesidioblastosis," is an important cause of hypoglycemia in infancy and childhood. Recent studies have defined this syndrome at the molecular, genetic, and clinical level. This article reviews the genetic and molecular basis of these entities, describes their clinical manifestations, and discusses the rationales for available therapeutic options.
Sperling
M A
MA
Department of Pediatrics, University of Pittsburgh School of Medicine, Pennsylvania, USA.
Menon
R K
RK
D018528:ATP-Binding Cassette Transporters; D000255:Adenosine Triphosphate / Q000494:pharmacology*; D006801:Humans; D007003:Hypoglycemia / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D007223:Infant; D007231:Infant, Newborn; D007328:Insulin / Q000378:metabolism; D000078790:Insulin Secretion; D009154:Mutation; D010182:Pancreatic Diseases / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D015221:Potassium Channels / Q000235:genetics* / Q000502:physiology; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug / Q000235:genetics* / Q000502:physiology; D064233:Sulfonylurea Receptors
D018528:ATP-Binding Cassette Transporters; D007328:Insulin; D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug; D064233:Sulfonylurea Receptors; D000255:Adenosine Triphosphate