Objective To study the diagnostic significance and clinical value of genetic analysis in children with neonatal diabetes. Methods Gene mutation analysis was performed in four patients from Zhengzhou children ' s hospital with diagnosis of with neonatal diabetes. Therapeutic effect of glibenclamide in patients with or without gene mutation was compared. Results KCNJ11 gene mutation was found in two patients with neonatal diabetes. Glibenclamide was found only effective for blood glucose control in patients with KCNJ11 mutation. Therefore, Insulin remains the best therapeutic choice in patients without the genetic mutation. Conclusions Genetic mutation status may be useful in choosing treatment options of neonatal diabetic patients, therefore, should be performed in all children with neonatal diabetes.%目的 探讨基因分析对新生儿糖尿病的诊断意义和临床价值.方法 选择本院内分泌遗传代谢科2012年2月至2013年9月收治并且进行家系基因突变分析的新生儿糖尿病患儿,分析其基因突变结果和临床特点,观察格列苯脲药物疗效与基因突变的关系.结果 4例患儿中,2例发现KCNJ11基因突变,2例未发现基因突变.2例KCNJ11基因突变患儿口服格列苯脲片血糖均得到良好控制,避免了长期胰岛素治疗;未发现突变的2例患儿口服格列苯脲片无效,血糖不稳定,改为中效胰岛素长期注射治疗.结论 对新生儿糖尿病患儿应早期进行基因突变分析,对指导临床药物选择有积极意义.
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