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

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• 作者：Milo&#x161 ; M. Je&#x161 ; ić ; ^a ; ^{milos.jesic@udk.bg.ac.rs} ; Maja D. Je&#x161 ; ić ; ^b ; Svjetlana Maglajlić ; ^a ; Silvija Sajić ; ^b ; Svetislav Necić ; ^b
• 关键词：PNDM ; New KCNJ11 mutation ; Sulfonylurea therapy
• 刊名：Diabetes Research and Clinical Practice
• 出版年：2011
• 出版时间：January 2011
• 年：2011
• 卷：91
• 期：1
• 页码：e1-e3
• 全文大小：109 K

文摘

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.