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新生儿糖尿病致病基因分析及其对疗效的影响 被引量：5

Genetic analysis of neonatal diabetes meilitus and its influence on treatment outcome
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摘要 14例新生儿糖尿病（neonatal diabetes mellitus）入选，比较胰岛素（n=5）和格列本脲（n=9）的疗效。扩增6例患儿KCNJll、ABCC8、INS基因并测序。共发现2例存在ABCC8基因突变，1例KCNJIl基因突变，1例为INS基因突变，1例为6q24甲基化减低，1例突变基因不清。9例新生儿糖尿病格列本脲治疗者8例血糖控制良好（88．9％）。5例采用胰岛素治疗后均失访或死亡。提示新生儿糖尿病胰岛素治疗依从性差，格列本脲可有效降低血糖。 Fourteen neonatal diabetes mellitus （NDM）patients were recruited. 9 patients were treated with glyburide and the other 5 with insulin. ABCC8, KCNJ11, and INS genes were sequenced in 6 of them. Gene mutations were found in 2, 1, and 1 cases in these genes, respectively. One case with 6q24 hypomethylation and another without known mutation were also found. 8 out of 9 patients treated with glyburide reached euglycemia （88.9%）. The other 5 patients with insulin therapy either died or lost contact. The results suggest that glyburide therapy is effective in neonatal diabetes mellitus, while insulin therapy may contribute to poor compliance.
作者 陈秀丽 沈水仙 罗飞宏 章淼滢 李堂 陈临琪 胡敏 杜虹 曹凌峰 程若倩 赵诸慧 支涤静
机构地区 复旦大学附属儿科医院内分泌遗传代谢科 青岛大学医学院附属医院儿科 苏州大学附属儿童医院内分泌科 嘉兴妇幼保健院 哈尔滨市儿童医院内分泌科 复旦大学附属儿科医院儿科研究所
出处 《中华内分泌代谢杂志》 CAS CSCD 北大核心 2011年第6期488-491,共4页 Chinese Journal of Endocrinology and Metabolism
关键词 新生儿糖尿病 格列本脲 KCNJ11基因 ABCC8基因 INS基因 突变 Neonatal diabetes mellitus Glyburide KCNJ11 gene ABCC8 gene INS gene Mutation
分类号 R722.1 [医药卫生—儿科]
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参考文献37

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二级参考文献6

共引文献6

同被引文献47

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引证文献5

二级引证文献24

中华内分泌代谢杂志
2011年 第6期

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