患有糖尿病和至少一个非自身免疫特征的儿童应考虑进行单一性糖尿病检测
Rebecca Myers1, Melek Yildiz2, Mehmet Nuri Ozbek3
1University of Exeter, Institute of Biomedical and Clinical Science, Exeter, United Kingdom.
The Journal of clinical endocrinology and metabolism
|August 1, 2025
概括
对于患有糖尿病和非自身免疫性胰腺外特征的儿童,建议对单一性糖尿病进行遗传检测. 岛屿自身抗体和1型糖尿病遗传风险评分 (T1DGRS) 有助于优先进行遗传检测.
科学领域:
- 儿科内分泌学 儿科内分泌学
- 临床遗传学 临床遗传学
- 糖尿病研究 糖尿病研究
背景情况:
- 目前儿童单基性糖尿病检测主要集中在年轻人成熟期糖尿病 (MODY) 或已知的遗传综合征上.
- 对于患有综合征性糖尿病的儿童,更广泛的诊断方法可能是有益的.
研究的目的:
- 评估基因测试对所有患有至少一个非自身免疫性胰腺外特征的糖尿病儿童的单一性糖尿病的实用性.
- 为了确定扩展基因查是否对这个患者群体有必要.
主要方法:
- 招募了183名患有糖尿病和至少一种非自身免疫性胰腺外特征的儿童.
- 测量小岛自身抗体和1型糖尿病遗传风险评分 (T1DGRS).
- 针对下一代测序来识别已知的单一性糖尿病原因.
主要成果:
- 在33% (61/183) 的儿童中确认了单一性糖尿病.
- 衰退性病因很常见 (84%),其中WFS1,SLC19A2和SLC29A3变种最常见.
- 在单一的病例中观察到更高的父母血缘关系和多系统特征.
- 低T1DGRS和阴性/未检测的抗体增加了单一性糖尿病的可能性.
结论:
- 对于患有糖尿病和非自身免疫性胰腺外特征的儿童,应考虑单基性糖尿病检测.
- 岛屿自身抗体和T1DGRS测量可以有效地优先考虑这些儿童的遗传测试.
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