摘要目的 分析13例新生儿糖尿病(NDM)的临床及随访资料,为临床诊治提供参考.方法 对2001年7月至2012年6月北京儿童医院诊治的13例NDM的临床表现、实验室检查及临床随访资料进行回顾性分析.结果 13例NDM的诊断时间为生后12 d～5个月,中位诊断时间为生后3个月.小于胎龄儿(SGA)7例.发热感染为首发症状者8例,尿液黏滞起病者2例,纳差、哭闹为首发症状者1例,反应差起病者1例,单纯抽搐起病者1例.全组4例伴抽搐.合并糖尿病酮症(DK)者4例,合并糖尿病酮症酸中毒(DKA)者6例.诊断时平均糖化血红蛋白为10.0％ (7.4％ ～14.2％).急性期均采用胰岛素治疗,剂量为1.0～1.2 U·kg-1·d-1,血糖控制均较好.随访至今(最短6个月,最长11年).除1例失访未进行分型外,4例为暂时性NDM(TNDM),于诊断后2周～3个月缓解；8例为永久性NDM(PNDM),其中1例Wolcott-Rallison综合征.PNDM中6例曾试用格列本脲治疗,1例有效,3例无效停用,2例因胃肠道反应停用.2例PNDM死亡,其中1例合并严重的智力、体力发育迟缓,诊断为发育迟缓、癫痫和新生儿糖尿病综合征(DEND),一直口服格列本脲治疗,于2.5岁时因感染诱发DKA死亡.另1例死于肝肾功能衰竭.所有PNDM随访时血糖控制均较好,7例有糖化血红蛋白值,中位数为6.7％(4.8％～7.0％).结论 NDM起病时症状不典型,临床易漏诊.近31％为暂时性,可自行缓解.胰岛素治疗均有效,血糖较易控制.婴幼儿对格列本脲耐受差,需要针对性使用.

abstractsObjectives To analyze the clinical features among 13 cases of neonatal diabetes mellitus (NDM).Methods Thirteen cases with NDM received treatment in our department between July 2001 and June 2012.The clinical features were reviewed retrospectively.Results The age at diagnosis was 0.4-5.0 months,the median age of diagnosis was 3 months.Seven cases were small for gestational age (SGA) infants.Infection presented in 8 cases,2 cases presented with viscose urine,2 cases presented with poor reaction,2 cases presented with poor appetite,1 case presented with seizure.Seizure was seen in 4cases.Six cases had diabetic ketoacidosis(DKA).The mean glycated hemoglobin A1c(HbA1c) at onset was 10.0％ (7.4％-14.2％).Insulin treatment was started in all 13 patients,the initial dose was 1.0-1.2 U · kg-1 · d-1,and their blood glucose was well under control.Among the 13 cases followed up,8 cases were verified as permanent NDM (PNDM),4 were transient NDM (TNDM),1 case missed after discharge.One child had skeletal dysplasia and was diagnosed as Wolcott-Rallison syndrome.Six cases were treated with glyburide,only 1 boy who diagnosed as developmental delay,epilepsy and neonatal diabetes syndrome(DEND) got good sugar control,2 cases stopped glyburide treatment for gastrointestinal side effects.Unfortunately,the patient diagnosed with DEND died at the age of 2.5 years because of DKA,another case died of hepatic and renal failure at the age of 1.5 years.The blood glucose of most patients was well controlled at the follow-up.Conclusions The clinical expressions of NDM were atypical and easily miss-diagnosed.Of all the NDM cases,up to 31％ was TNDM and relieved automatically.Insulin was the best choice before genetic identification.