中国当代儿科杂志2025，Vol.27Issue(1)：94-100,7.DOI:10.7499/j.issn.1008-8830.2408032
儿童期诊断的青少年起病的成人型糖尿病2型临床特点及基因分析
Clinical characteristics and genetic analysis of maturity-onset diabetes of the young type 2 diagnosed in childhood
摘要
Abstract
Objective To study the clinical manifestations and genetic characteristics of children with maturity-onset diabetes of the young type 2(MODY2),aiming to enhance the recognition of MODY2 in clinical practice.Methods A retrospective analysis was conducted on the clinical data of 13 children diagnosed with MODY2 at the Department of Pediatrics of Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology from August 2017 to July 2023.Results All 13 MODY2 children had a positive family history of diabetes and were found to have mild fasting hyperglycemia[(6.4±0.5)mmol/L]during health examinations or due to infectious diseases.In the oral glucose tolerance test,two cases met the diagnostic criteria for diabetes with fasting blood glucose,while the others exhibited impaired fasting glucose or impaired glucose tolerance.The one-hour post-glucose load(1-hPG)fluctuated between 8.31 and 13.06 mmol/L,meeting the diagnostic criteria for diabetes recommended by the International Diabetes Federation.All 13 MODY2 children had heterozygous variants in the glucokinase(GCK)gene,with Cases 6(GCK c.1047C>A,p.Y349X),11(GCK c.1146_1147ins GCAGAGCGTGTCTACGCGCGCTGCGCACATGTGC,p.S383Alafs*87),and 13(GCK c.784_785insC,p.D262Alafs*13)presenting variants that had not been previously reported.Conclusions This study enriches the spectrum of genetic variations associated with MODY2.Clinically,children with a family history of diabetes,incidental findings of mild fasting hyperglycemia,and negative diabetes-related antibodies should be considered for the possibility of MODY2.关键词
单基因糖尿病/青少年起病的成人型糖尿病2型/葡萄糖激酶基因/基因型/儿童Key words
Monogenic diabetes/Maturity-onset diabetes of the young type 2/GCK gene/Genotype/Child引用本文复制引用
叶娟,叶枫,侯凌,吴薇,罗小平,梁雁..儿童期诊断的青少年起病的成人型糖尿病2型临床特点及基因分析[J].中国当代儿科杂志,2025,27(1):94-100,7.基金项目
国家重点研发计划项目(2023YFC2706300) （2023YFC2706300）
四大慢病重大专项(2023ZD0509100). （2023ZD0509100）
