Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
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Review
MeSH terms
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ATP-Binding Cassette Transporters*
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Adenosine Triphosphate / pharmacology*
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Humans
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Hypoglycemia* / diagnosis
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Hypoglycemia* / genetics
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Hypoglycemia* / therapy
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Infant
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Infant, Newborn
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Insulin / metabolism
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Insulin Secretion
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Mutation
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Pancreatic Diseases* / diagnosis
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Pancreatic Diseases* / genetics
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Pancreatic Diseases* / therapy
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Potassium Channels / genetics*
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Potassium Channels / physiology
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Potassium Channels, Inwardly Rectifying*
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Receptors, Drug / genetics*
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Receptors, Drug / physiology
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Sulfonylurea Receptors
Substances
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ATP-Binding Cassette Transporters
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Insulin
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Potassium Channels
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Potassium Channels, Inwardly Rectifying
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Receptors, Drug
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Sulfonylurea Receptors
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Adenosine Triphosphate