成功用磺酰脲类药物治疗因 KCNJ11 新突变导致的新生儿糖尿病的新生儿。
Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a new KCNJ11 mutation.
机构信息
Department of Neonatology, University Children's Hospital, Tiršova 10, Belgrade, Serbia.
出版信息
Diabetes Res Clin Pract. 2011 Jan;91(1):e1-3. doi: 10.1016/j.diabres.2010.09.027. Epub 2010 Nov 5.
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.
摘要
KCNJ11 基因突变，该基因编码 ATP 敏感性钾通道的 Kir6.2 亚基，常导致新生儿糖尿病。我们描述了一名女性新生儿，她是 KCNJ11 基因中新错义突变 V252L 的杂合子，已成功从胰岛素过渡到磺脲类药物治疗。
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