Abstract
Mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the ATP-sensitive potassium channel, often result in neonatal diabetes. We describe a female neonate who is a heterozygous for a new missense mutation, V252L, in the KCNJ11 gene and who has been successfully transitioned from insulin to sulfonylurea therapy.
2010 Elsevier Ireland Ltd. All rights reserved.
MeSH terms
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Diabetes Mellitus / drug therapy*
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Diabetes Mellitus / genetics*
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Female
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Glyburide / adverse effects
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Glyburide / therapeutic use
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Heterozygote
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Humans
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Hypoglycemic Agents / adverse effects
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Hypoglycemic Agents / therapeutic use*
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Infant, Newborn
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Mutation, Missense*
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Potassium Channels, Inwardly Rectifying / chemistry
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Potassium Channels, Inwardly Rectifying / genetics*
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Sulfonylurea Compounds / adverse effects
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Sulfonylurea Compounds / therapeutic use*
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Treatment Outcome
Substances
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Hypoglycemic Agents
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Kir6.2 channel
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Potassium Channels, Inwardly Rectifying
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Sulfonylurea Compounds
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Glyburide