Permanent neonatal diabetes due to KCNJ11 gene mutation

被引：0
|
作者：
S. Letha
Darly Mammen
Joseph J. Valamparampil
机构：
[1] Government Medical College,Department of Pediatrics
来源：
The Indian Journal of Pediatrics | 2007年 / 74卷
关键词：
Permanent neonatal diabetes; KCN11 gene; Kir 6.2; Sulphonylurea; Glibenclamide;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Permanent neonatal diabetes mellitus (PNDM) is characterized by the onset of diabetes within the first six months of life and insulin dependence life long. It has been recently discovered that mutation in KCNJ11 gene encoding Kir6.2, the pore forming subunit of ATP sensitive potassium channel (KATP) is the most common cause and such patients may respond better to oral sulphonylurea drugs than insulin. Here is a rare case of permanent neonatal diabetes due to R201C mutation in KCNJ11 gene.
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页码：947 / 949
页数：2
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