新生儿糖尿病6例病例特点及临床分析

Characteristics and clinical analysis of 6 cases of neonatal diabetes mellitus

目的总结6例新生儿糖尿病(neonatal diabetes mellitus,NDM)的临床特点及随访资料,为临床诊疗提供参考。方法对2013年2月至2021年6月就诊于徐州医科大学附属徐州儿童医院内分泌科6例NDM病儿的临床特征、诊疗经过等进行回顾性分析。结果病儿诊断年龄范围为3~256 d,随访时间范围为4.5~102.2个月。反应差起病3例,发热感染起病3例。初诊时4例合并糖尿病酮症酸中毒,1例合并糖尿病酮症。急性期胰岛素治疗血糖控制良好。5例行格列本脲经验性治疗,4例有效,1例无效停药,经基因检测证实格列本脲治疗有效为KCNJ11基因突变,其中1例基因突变为首次报道。4例使用格列本脲病儿随访至今血糖均控制良好,1例随访至6月龄停格列本脲,8岁复发后予胰岛素治疗。结论格列本脲对KCNJ11基因突变NDM治疗有效,长期随访安全。TNDM缓解后可出现复发,复发后可予胰岛素治疗。

Objective To summarize the clinical characteristics and follow-up data of 6 cases of neonatal diabetes mellitus(NDM),so as to provide reference for clinical diagnosis and treatment.Methods The clinical characteristics,diagnosis and treatment of 6 children with NDM in the Department of Endocrinology,Xuzhou Children's Hospital Affiliated to Xuzhou Medical University from February 2013 to June 2021 were analyzed retrospectively.Results The age of diagnosis was 3-256 days and the follow-up was 4.5-102.2 months.There were 3 cases of poor response and 3 cases of fever infection.At the initial diagnosis,4 cases had diabetic ketoacidosis and 1 cases had diabetic ketosis.Blood glucose was well controlled by insulin treatment in acute stage.Five cases were treated with glibenclamide empirically,4 cases were effective and 1 case was ineffective.Gene test confirmed that the effective treatment of glibenclamide was KCNJ11 gene mutation,of which 1 gene mutation was reported for the first time.The blood glucose of 4 children treated with glibenclamide was well controlled since follow-up.One case stopped glibenclamide after follow-up to 6 months,relapsed at the age of 8 years and was treated with insulin.Conclusion Glibenclamide is effective in the treatment of NDM with KCNJ11 gene mutation.TNDM relapses after remission,and insulin treatment can be given after recurrence.