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KCNJ11 in-frame 15-bp deletion leading to glibenclamide- responsive neonatal diabetes mellitus in a Chinese child

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收录情况： ◇ SCIE

作者：

机构： [1]Capital Med Univ, Beijing Childrens Hosp, Dept Endocrinol, Minist Educ,Natl Key Discipline Pediat, Beijing 100045, Peoples R China; [2]Childrens Hosp Urumqi Xinjiang, Dept Endocrinol, Xinjiang 830002, Peoples R China; [3]Capital Med Univ, Beijing Childrens Hosp, Dept Endocrinol, Fuxingmenwai Nanlishi Rd 56, Beijing 100045, Peoples R China

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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 identified 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.

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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

JCR分区：

出版当年[2011]版：

Q4 PEDIATRICS Q4 ENDOCRINOLOGY & METABOLISM

最新[2024]版：

Q3 PEDIATRICS Q4 ENDOCRINOLOGY & METABOLISM

影响因子： 1 最新[2024版] 1.4 最新五年平均 0.875 出版当年[2011版] 1.026 出版当年五年平均 0.887 出版前一年[2010版] 0.747 出版后一年[2012版]

第一作者：

第一作者机构： [1]Capital Med Univ, Beijing Childrens Hosp, Dept Endocrinol, Minist Educ,Natl Key Discipline Pediat, Beijing 100045, Peoples R China;

通讯作者：

通讯机构： [1]Capital Med Univ, Beijing Childrens Hosp, Dept Endocrinol, Minist Educ,Natl Key Discipline Pediat, Beijing 100045, Peoples R China; [3]Capital Med Univ, Beijing Childrens Hosp, Dept Endocrinol, Fuxingmenwai Nanlishi Rd 56, Beijing 100045, Peoples R China

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