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| 新生儿糖尿病致病基因分析及其对疗效的影响 | |
| 引用本文： | 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.新生儿糖尿病致病基因分析及其对疗效的影响[J].中华内分泌代谢杂志,2011,27(6). |
| 作者姓名： | 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 |
| 作者单位： | 1. 复旦大学附属儿科医院内分泌遗传代谢科,上海,201102 2. 青岛大学医学院附属医院儿科 3. 苏州大学附属儿童医院内分泌科 4. 嘉兴妇幼保健院 5. 哈尔滨市儿童医院内分泌科 6. 上海,复旦大学附属儿科医院儿科研究所 |
| 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KCNJ11、ABCC8、INS基因并测序.共发现2例存在ABCC8基因突变,1例KCNJ11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. |
| 关 键 词： | 新生儿糖尿病 格列本脲 KCNJ11基因 ABCC8基因 INS基因 突变 |
Genetic analysis of neonatal diabetes mellitus and its influence on treatment outcome |
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| CHEN Xiu-li,SHEN Shui-xian,LUO Fei-hong,ZHANG Miao-ying,LI Tang,CHEN Lin-qi,HU Min,DU Hong,CAO Ling-feng,CHENG Ruo-qian,ZHAO Zhu-hui,ZHI Di-jing.Genetic analysis of neonatal diabetes mellitus and its influence on treatment outcome[J].Chinese Journal of Endocrinology and Metabolism,2011,27(6). | |
| Authors: | CHEN Xiu-li SHEN Shui-xian LUO Fei-hong ZHANG Miao-ying LI Tang CHEN Lin-qi HU Min DU Hong CAO Ling-feng CHENG Ruo-qian ZHAO Zhu-hui ZHI Di-jing |
| Abstract: | 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. |
| Keywords: | Neonatal diabetes mellitus Glyburide KCNJ11 gene ABCC8 gene INS gene Mutation |
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