Urakami Tatsuhiko, Terada Hiroki, Mine Yusuke, Aoki Masako, Suzuki Junichi, Morioka Ichiro
Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan.
Clin Pediatr Endocrinol. 2024;33(3):113-123. doi: 10.1297/cpe.2024-0009. Epub 2024 Apr 15.
This study aimed to examine the clinical characteristics of young children diagnosed with maturity-onset diabetes (MODY) using urine glucose screening at schools. The study participants were 70 non-obese children who were clinically diagnosed with type 2 diabetes through urine glucose screening at schools in Tokyo between 1974 and 2020. Of these children, 55 underwent genetic testing, and 21 were finally diagnosed with MODY: MODY2 in eight, MODY3 in eight, MODY1 in four and MODY5 in one. A family history of diabetes was found in 76.2% of the patients. Fasting plasma glucose levels did not differ between the different MODY subtypes, while patients with MODY 3, 1, and 5 had significantly higher levels of glycosylated hemoglobin and 2-hour glucose in an oral glucose tolerance test than those with MODY2. In contrast, most patients exhibit mild insulin resistance and sustained β-cell function. In the initial treatment, all patients with MODY2 were well controlled with diet and exercise, whereas the majority of those with MODY3, 1, and 5 required pharmacological treatment within one month of diagnosis. In conclusion, urine glucose screening in schools appears to be one of the best opportunities for early detection of the disease and providing appropriate treatment to patients.
本研究旨在通过学校尿液葡萄糖筛查来检查被诊断为成年发病型糖尿病(MODY)的幼儿的临床特征。研究参与者为70名非肥胖儿童,他们于1974年至2020年期间在东京的学校通过尿液葡萄糖筛查被临床诊断为2型糖尿病。在这些儿童中,55名接受了基因检测,最终21名被诊断为MODY:8名患有MODY2,8名患有MODY3,4名患有MODY1,1名患有MODY5。76.2%的患者有糖尿病家族史。不同MODY亚型之间的空腹血糖水平无差异,而MODY 3、1和5型患者在口服葡萄糖耐量试验中的糖化血红蛋白水平和2小时血糖水平显著高于MODY2型患者。相比之下,大多数患者表现出轻度胰岛素抵抗和持续的β细胞功能。在初始治疗中,所有MODY2型患者通过饮食和运动得到良好控制,而大多数MODY3、1和5型患者在诊断后一个月内需要药物治疗。总之,学校尿液葡萄糖筛查似乎是早期发现该疾病并为患者提供适当治疗的最佳机会之一。