Abstract
In persistent hyperinsulinemic hypoglycemia (PHHI) of infancy, secretion of insulin is unregulated, resulting in profound hypoglycemia. Two histopathologic forms are known: focal adenomatous islet-cell hyperplasia and diffuse abnormalities of beta-cell hyperfunction. PHHI is caused by mutations in SUR1, which is a member of the ATP-binding cassette superfamily, and in Kir6.2, which is a member of the inwardly rectifying family of potassium channels.
Copyright 2003 Wiley-Liss, Inc.
MeSH terms
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ATP-Binding Cassette Transporters
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Congenital Hyperinsulinism / genetics*
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Congenital Hyperinsulinism / physiopathology
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Humans
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Mutation
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Potassium Channels / chemistry
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Potassium Channels / genetics
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Potassium Channels / metabolism
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Potassium Channels, Inwardly Rectifying / genetics
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Potassium Channels, Inwardly Rectifying / metabolism
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Receptors, Drug
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Sulfonylurea Receptors
Substances
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ABCC8 protein, human
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ATP-Binding Cassette Transporters
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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