Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a new KCNJ11 mutation

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...

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Veröffentlicht in:	Diabetes research and clinical practice 2011-01, Vol.91 (1), p.e1-e3
Hauptverfasser:	Ješić, Miloš M, Ješić, Maja D, Maglajlić, Svjetlana, Sajić, Silvija, Necić, Svetislav
Format:	Artikel
Sprache:	eng
Schlagworte:	Diabetes Mellitus - drug therapy Diabetes Mellitus - genetics Endocrinology & Metabolism Female Glyburide - adverse effects Glyburide - therapeutic use Heterozygote Humans Hypoglycemic Agents - adverse effects Hypoglycemic Agents - therapeutic use Infant, Newborn Mutation, Missense New KCNJ11 mutation PNDM Potassium Channels, Inwardly Rectifying - chemistry Potassium Channels, Inwardly Rectifying - genetics Sulfonylurea Compounds - adverse effects Sulfonylurea Compounds - therapeutic use Sulfonylurea therapy Treatment Outcome
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Zusammenfassung:	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.
ISSN:	0168-8227 1872-8227
DOI:	10.1016/j.diabres.2010.09.027