当前位置: 首页 > 详情页

KCNJ11 in-frame 15-bp deletion leading to glibenclamideresponsive neonatal diabetes mellitus in a chinese child

文献详情

资源类型:
机构: [a]Department of Endocrinology, National Key Discipline of Pediatrics, Beijing Children ' S Hospital, Beijing 100045, China [b]Department of Endocrinology, Children's Hospital of Urumqi Xinjiang, Xinjiang 830002, China
出处:
ISSN:

关键词: Glibenclamide KCNJ11 Kir6 2 Neonatal diabetes

摘要:
The ATP-sensitive K channel controls insulin secretion from the islet. Mutations in KCNJ11 can cause permanent and transient neonatal diabetes. To date, more than 30 KCNJ11 mutations have been revealed as related to the onset of neonatal diabetes mellitus (NDM), most of which are responsive to glibenclamide treatment. In the present study, we sequenced the KCNJ11 gene in a Chinese girl diagnosed with NDM and in her parents. An in-frame 15-bp KCNJ11 deletion was identifi ed in the patient, whereas no KCNJ11 deletions were found in her parents, indicating that this deletion was de novo. The patient was responsive to the treatment of glibenclamide. Ten months of follow-up showed that, besides permanent NDM, the motor and intelligence development of the girl was normal and she suffered no onset of convulsions. The result, to some degree, improved our knowledge on NDM. © 2013 by Walter de Gruyter.

基金:
语种:
中科院(CAS)分区:
出版当年[2012]版:
大类 | 4 区 医学
小类 | 4 区 内分泌学与代谢 4 区 儿科
最新[2025]版:
大类 | 4 区 医学
小类 | 4 区 内分泌学与代谢 4 区 儿科
第一作者:
推荐引用方式(GB/T 7714):
APA:
MLA:

资源点击量:17670 今日访问量:0 总访问量:939 更新日期:2025-07-01 建议使用谷歌、火狐浏览器 常见问题

版权所有©2020 首都医科大学宣武医院 技术支持:重庆聚合科技有限公司 地址:北京市西城区长椿街45号宣武医院