新生儿基因组查溶酶体储存障碍的影响:中国的一组研究
Xin Wang1, Yun Sun1, Xian-Wei Guan1
1Genetic Medicine Center, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, Qinhuai District, 123 Tianfei Lane, Mochou Road, Nanjing, Jiangsu Province, 210004, China.
Genome medicine
|May 12, 2025
概括
新生儿基因组查 (NBGS) 显示了早期检测溶酶体储存障碍 (LSD) 的前景,识别了症状前的个体,以便及时干预. 将NBGS整合到新生儿查计划中可以改善罕见疾病的健康结果.
科学领域:
- 遗传学 遗传学 是一个
- 罕见疾病 罕见疾病
- 新生儿查 新生儿查
背景情况:
- 溶酶体储存障碍 (LSD) 是一种罕见的疾病,如果不治疗,会对健康产生重大影响.
- 目前的新生儿查计划往往不包括LSD,导致诊断和治疗延迟.
- 新生儿基因组查 (NBGS) 已被证明对其他疾病有效,但其对LSDs在一般新生儿群体中的实用性尚未评估.
研究的目的:
- 评估新生儿基因组查 (NBGS) 对于检测新生儿溶酶体储存障碍 (LSD) 的有效性.
- 为了比较NBGS-first与酶活性-first查策略对LSDs的性能.
- 确定LSDs在新生儿队列中的发病率和携带者率.
主要方法:
- 一项包括22687名新生儿在中国南京的队列研究,从2022年3月到2023年9月.
- 所有参与者都通过使用干血斑点对15个LSD (18个基因) 进行了NBGS.
- 具有NBGS阳性的个体接受了酶活性测试,以确认诊断并评估查策略的有效性.
主要成果:
- NBGS确定了1344个载体 (6.0%) 和30个最初阳性病例 (0.13%) 的LSDs.
- 估计LSDs的联合出生发病率是1/1512,其中法布里病,克拉贝病和其他疾病是突出的.
- 与酶活性优先方法相比,NBGS-first策略显示出更高的灵敏度,特异性和积极的预测价值.
结论:
- NBGS有效地提高了预症状LSD病例的早期检测,促进了及时的医疗干预.
- 将NBGS整合到常规新生儿查中,为识别和管理LSD提供了一个积极的策略.
- 这种方法可以显著改善受LSD影响的新生儿的健康结果.
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