儿童单基因糖尿病临床与分子遗传特征——单中心研究  

Clinical and molecular characteristics of monogenic diabetes mellitus in children-single center study

作　　者：陈琼[1] 刘芳[1] 崔岩[1] 李园[1] 卫海燕[1] Chen Qiong;Liu Fang;Cui Yan;Li Yuan;Wei Haiyan(Department of Endocrinology Genetics and Metabolism,Children′s Hospital Affiliated to Zhengzhou University,Henan Children′s Hospital Zhengzhou Children′s Hospital,Zhengzhou 450053,China)

机构地区：[1]郑州大学附属儿童医院、河南省儿童医院、郑州儿童医院内分泌遗传代谢科,郑州450053

出　　处：《中华内分泌代谢杂志》2025年第2期129-134,共6页Chinese Journal of Endocrinology and Metabolism

基　　金：河南省科技攻关项目(222102310508)。

摘　　要：目的探讨河南省儿童医院单中心单基因糖尿病临床及分子遗传特征。方法收集2016年1月至2023年8月在河南省儿童医院内分泌遗传代谢科诊断为单基因糖尿病的患儿临床资料,分析其分子遗传特征。结果单中心纳入疑诊患儿84例,共诊断44例单基因糖尿病,基因诊断阳性率52.4%,包括新生儿糖尿病(NDM)14例,青少年起病的成人型糖尿病(MODY)22例,与糖尿病相关的其他遗传综合征8例;NDM患儿较MODY及其他遗传综合征发病年龄小(P<0.001,P<0.001),入院血糖明显升高(P<0.001,P<0.001),同时NDM与MODY患儿相比,小于胎龄儿比率及糖尿病酮症酸中毒比率升高(P=0.009,P=0.008)。研究发现3例未经报道的新发杂合变异,分别为胰岛素样生长因子1受体(IGF1R)基因c.2650G>T、葡萄糖激酶(GCK)基因c.572G>C、GCK c.766G>T。结论根据患儿特异临床表型、出生史及家族史,分子遗传诊断阳性率高,能够更好地指导单基因糖尿病的诊疗、遗传咨询及预后。Objective To investigate the clinical and molecular characteristics of monogenic diabetes in children at a single-center in Henan Province.Methods Clinical data from children diagnosed with monogenic diabetes at the Department of Endocrinology and Genetic Metabolism,Henan Children’s Hospital,between January 2016 and August 2023 were analyzed,alongside molecular genetic testing.Results Of 84 children suspected of monogenic diabetes,44 were genetically diagnosed with a 52.4%positive rate.Diagnosis included neonatal diabetes mellitus(NDM,14 cases),maturity-onset diabetes of the young(MODY,22 cases),and other diabetes-related genetic syndromes(8 cases).NDM patients had a younger age at onset,higher blood glucose levels at admission,and a greater incidence of being small for gestational age and diabetic ketoacidosis compared to MODY patients(P<0.001).Three novel heterozygous mutations were identified in IGF1R and GCK genes,namely IGF1R c.2650G>T,GCK c.572G>C,GCK c.766G>T.Conclusions The high molecular diagnostic rate based on clinical phenotype,birth history,and family history enhances the diagnosis,management,genetic counseling,and prognosis of monogenic diabetes in children.

关 键 词：单基因糖尿病 儿童 基因检测 

分 类 号：R725.8[医药卫生—儿科]