非向性尿液寡糖查的临床用处
Gisele Bentz Pino1, Marie A Quade1, Matthew J Schultz1
1Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, United States of America.
Molecular genetics and metabolism
|November 1, 2025
概括
使用矩阵辅助激光脱/离子化飞行时间质谱法 (MALDI-TOF MS) 的高分辨率尿液寡糖查有效诊断各种遗传疾病. 这种方法具有很高的积极预测价值,是初始患者查的宝贵工具.
科学领域:
- 生物化学 生化学
- 临床诊断 临床诊断 临床诊断
- 质谱测量质量谱测量
背景情况:
- 矩阵辅助激光脱/离子化飞行时间质谱 (MALDI-TOF MS) 一十年来一直是尿液寡糖查的临床工具.
- 它的无针对性分析在诊断各种疾病方面具有广泛的实用性.
研究的目的:
- 使用MALDI-TOF MS. 报告以前未被描述的疾病的新型特征性寡糖形状.
- 在诊断实验室中审查尿液寡糖查的临床性能和测试特征.
主要方法:
- 分析了来自4145名独特患者的4445个尿样,使用高分辨率的MALDI-TOF MS.
- 对各种遗传代谢障碍的寡糖样的表征.
主要成果:
- 识别了溶酶体疾病,血糖结合的先天性疾病和糖原储存障碍的特征概况.
- 在所有条件中实现了89.7%的积极预测值,有139个积极结果和16个错误的积极结果.
- 庞培病显示出最高的错误阳性率,原因是与配方奶粉养婴儿的情况相似. 没有报告任何虚假阴性结果.
结论:
- 用MALDI-TOF MS查尿中的寡糖是有效的初始诊断方法.
- 这种测试对于表现出暗示 lysosomal 疾病的症状的患者来说特别有价值.
- 该方法使用可访问的样本,并为临床诊断提供快速的周转时间.
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