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目的介绍基因变异新生儿糖尿病(NDM)的临床表现、辅助检查与治疗转归。方法报道1例基因变异NDM患儿,回顾分析该患儿临床资料及诊疗过程,并复习国内外相关文献。结果本例患儿生后第1天静脉血糖3.86mmol/L,微量血糖3.0mmol/L,第2天微量血糖增高,有一次8.0mmol/L。第4天每6h测微量血糖分别为9.4、9.2、7.7、11.1mmol/L,第5天分别为7.7、11.1、13.8、13.8mmol/L,静脉血糖:13.6mmol/L,查胰岛素1.85mIu/L,C肽0.066ng/ml,抗胰岛细胞抗体、抗谷氨酸脱羧酶抗体、抗胰岛素抗体均为阴性,胰岛素治疗效果欠佳,基因检测患儿KCNJ11及INS基因突变。生后第32天开始口服格列本脲,生后第40天加量至1.4mg,每天2次,患儿血糖控制稳定。结论当KCNJ11基因发生突变时导致KATP通道关闭发生障碍,胰岛素分泌下降,引起NDM。磺脲类药物对KATP通道异常导致的NDM疗效优于胰岛素。
Objective To introduce the clinical manifestations of genetic variant neonatal diabetes mellitus (NDM) and assist the examination and treatment outcome. Methods One case of genetically variant NDM was reported. The clinical data and diagnosis and treatment of the children were retrospectively reviewed. Relevant literatures at home and abroad were reviewed. Results In this case, the blood glucose was 3.86mmol / L on the first day after birth, the micro-blood glucose was 3.0mmol / L, and the second micro-blood glucose was increased on the second day with 8.0mmol / L once. On the fourth day, the blood glucose was measured at 9h, 9h, 7h and 11h after 6h, 7.7, 11, 13, 13 and 13.8mmol / L on the fifth day, 13.6mmol / L on the 5th day, 1.85mIu / L, C peptide 0.066ng / ml, anti-islet cell antibody, anti-glutamic acid decarboxylase antibody, anti-insulin antibodies were negative, poor insulin therapy, genetic testing KCNJ11 and INS gene mutations in children. Glibenclamide was administered orally on the 32nd day after birth, and the dosage was increased to 1.4mg on the 40th day after birth. The blood glucose level was stable in the control group. Conclusions When KCNJ11 gene is mutated, the KATP channel is blocked and the insulin secretion is decreased, leading to NDM. Sulfonylureas are superior to insulin in the NDM response to abnormal KATP channels.