目的 分析总结青少年起病的成人型糖尿病2型（maturity-onset diabetes of the young type 2, MODY2）患儿的临床表现及遗传学特点，提高临床工作中对MODY2的识别能力。 方法 回顾性分析2017年8月—2023年7月在华中科技大学同济医学院附属同济医院儿科确诊的13例MODY2患儿的临床资料。 结果 13例MODY2患儿（编号P1~13）均有糖尿病家族史，均为健康体检或因感染性疾病偶然发现的轻度空腹高血糖［（6.4±0.5） mmol/L）］。其中2例空腹血糖达到糖尿病诊断标准，其他病例均为空腹血糖受损或糖耐量受损；1 h血糖（one-hour post-glucose, 1-hPG）波动在8.31~13.06 mmol/L，已到达国际糖尿病联盟推荐的糖尿病诊断标准。13例MODY2患儿均为葡萄糖激酶（glucokinase, GCK）基因杂合变异，其中P6为GCK c.1047C>A（p.Y349X）、P11为GCK c.1146_1147insGCAGAGCGTGTCTACGCGCGCTGCGCACATGTGC（p.S383Alafs*87）和P13为GCK c.784_785insC（p.D262Alafs*13），均为尚未报道过的变异。 结论 该研究丰富了MODY2的基因变异谱；临床对于有糖尿病家族史、偶然发现的轻度空腹血糖增高、糖尿病相关抗体阴性的患儿，需警惕MODY2可能。
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
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参考文献
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基金
国家重点研发计划项目（2023YFC2706300）；四大慢病重大专项（2023ZD0509100）。
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