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三例新生儿糖尿病临床表型与基因分型诊断分析

顾威,赵雪,周巧利

Chinese Journal of Diabetes（2021）

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Abstract
收集并总结3例新生儿糖尿病(NDM)患儿资料,随访并分析其临床表型与基因突变特征.KCNJ11基因c.511A>G与ABCC8基因c.892C>T是NDM新发突变.磺脲类药物是K-ATP通道相关基因突变的NDM患者的有效治疗药物,可部分改善神经行为发育障碍.1岁以内血糖异常患儿应尽快明确基因诊断有助于指导治疗及判断预后.
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