永久性新生儿糖尿病病例报告的系统评价  

Permanent neonatal diabetes mellitus case reports: a systematic review

作　　者：裴文婷 徐畅 贾鹏丽 PEI Wenting;XU Chang;JIA Pengli(The Second Clinical Medical College of Anhui Medical University,Hefei 230000,P.R.China;Proof of Concept Center,Eastern Hepatobiliary Surgery Hospital,Naval Medical University,Shanghai 200433,P.R.China;School of Management,Shanxi Medical University,Taiyuan 030001,P.R.China)

机构地区：[1]安徽医科大学第二临床医学院,合肥230000 [2]海军军医大学上海东方肝胆外科医院概念验证中心,上海200433 [3]山西医科大学管理学院,太原030001

出　　处：《中国循证医学杂志》2024年第5期572-576,共5页Chinese Journal of Evidence-based Medicine

基　　金：山西省基础研究计划(自由探索类)(编号:202303021222159);国家自然科学基金项目(编号:72204003)。

摘　　要：目的 系统评价永久性新生儿糖尿病(permanent neonatal diabetes mellitus,PNDM)病例报告的临床和遗传特征。方法 计算机检索PubMed、Embase、Scopus、SinoMed、Web of Science、CINAHL、Medrxiv、VIP、CNKI和WanFang Data数据库,搜集关于PNMD的病例报告,检索时限均为建库至2023年6月。由2名研究者独立筛选文献、提取资料并评价纳入研究的报告质量后,进行描述性分析。结果 共纳入105篇病例报告。PNDM典型临床表现为早期出现的持久性高血糖、发育迟缓和低出生体重等临床症状。基因检测结果显示,KCNJ11、INS、EIF2AK3、GCK、ABCC8、PTF1A、GATA6、IER3IP1、SLC19A2、NEUROG3、PDX1、6q24基因的突变与PNDM的发生密切相关。此外,不同遗传型的PNDM可能存在着不同的临床表现和预后。结论 本研究揭示了PNDM的临床特征和遗传模式,为PNDM发生机制的进一步研究提供了方向。Objective To systematically review the clinical and genetic features of permanent neonatal diabetes mellitus(PNDM)case reports.Methods The PubMed,Embase,Scopus,SinoMed,Web of Science,CINAHL,Medrxiv,VIP,CNKI and WanFang Data databases were electronically searched to collect PNDM case reports from inception to June 2023.Two reviewers independently screened literature,extracted data and assessed the reporting quality of the included studies.Descriptive analysis was performed.Results A total of 105 case reports were finally included.Typical clinical manifestations of PNDM were early onset of persistent hyperglycemia,developmental delay and low birth weight.The results of genetic testing showed that mutations in the KCNJ11,INS,EIF2AK3,GCK,ABCC8,PTF1A,GATA6,IER3IP1,SLC19A2,NEUROG3,PDX1,and 6q24 genes were closely associated with the development of PNDM.In addition,there may be different clinical manifestations and prognosis of PNDM in different genotypes.Conclusion This study reveales the clinical characteristics and genetic pattern of PNDM,and provides a direction for further research on the mechanism of PNDM.

关 键 词：永久性新生儿糖尿病 PNDM 病例报告 临床特征 

分 类 号：R722.1[医药卫生—儿科]