永久性新生儿糖尿病30例临床特点及治疗反应分析  

Clinical characteristics and follow-up data of 30 cases with permanent neonatal diabetes

作　　者：于淼[1] 刘一静[1] 李明敏[1] 王彤[1] 王志新[1] 陈思[1] 张茜[1] 张化冰[1] 李文慧[1] 肖新华[1] 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院内分泌科卫生部内分泌重点实验室,100730

出　　处：《中华糖尿病杂志》2013年第4期209-211,共3页CHINESE JOURNAL OF DIABETES MELLITUS

基　　金：国家自然科学基金（81170736、81200584）;卫生部内分泌重点实验室面上项目;“国家临床重点专科”资助课题;卫生部一诺和诺德糖尿病研究英才基金

摘　　要：目的总结永久性新生儿糖尿病患儿（PNDM）的临床特点，加强对该病的认识并提高临床诊治水平。方法分析北京协和医院2007年8月至2012年8月收治的30例PNDM患儿的临床资料，并对起病特点、症状体征、实验室检查、影像学表现、治疗反应及随诊情况进行分析。结果30例PNDM患儿中出生体重异常（包括低出生体重和巨大儿）者7例（23．3％）；表现为酮症起病者25例（83．3％）；空腹C肽及胰岛素水平降低者19例（63．3％）；5例（16．6％）伴神经系统异常（包括肌力差、语言发育差、癫痫及中枢神经系统影像学异常）但预后良好；3例（10．0％）伴腹部发育异常（腹部超声结果）。26例应用胰岛素皮下注射控制血糖，4例由胰岛素成功转换为格列本脲口服治疗。全部患者血糖控制良好。结论30例永久性新生儿糖尿病患儿多以酮症起病，大多伴空腹C肽及胰岛素水平下降，部分伴其他系统发育异常。多数患儿需用胰岛素治疗，部分患儿可由胰岛素成功转换为磺脲类口服治疗。Objective To summarize the clinical characteristics, treatment response and follow-up data of Chinese permanent neonatal diabetes patients to improve clinical management. Methods A total of 30 permanent neonatal diabetes patients admitted to Peking Union Medical College Hospital from August, 2007 to August, 2012 were enrolled in this study. The clinical feature of onset, symptoms, signs, treatment response and follow-up data were analyzed. Results Abnormal birth weight, including both small for gestational age （SGA） and macrosomia, was observed in 7 （23.3 % ） cases. Ketosis was the manifestation at diagnosis in 25（83.3% ） cases. Fasting C peptide and insulin levels were reduced in 19（63.3% ） cases. Nerve system abnormalities were found in 5 cases （ 16.6% ）, including strength weakness, poor language function, epilepsy and central nerve system radiographic abnormalities, but with good prognosis. Abdominal malformation was found in 3 cases by ultrasound. A total of 4 cases had been successfully switched from insulin injection to oral glibenclamide. All cases were under good glycemic control without obvious adverse events. Conclusions Ketosis could be the first manifestation at diagnosis among most Chinese permanent neonatal diabetes patients, with reduced fasting C-peptide and insulin levels and sometimes with abnormalities in other systems. Most permanent neonatal diabetes patients should be treated with insulin, while oral glibenclamide could be efficacious in some patients.

关 键 词：永久性新生儿糖尿病 临床特点 治疗反应 

分 类 号：R722.1[医药卫生—儿科]