遗传性血栓友与父母-孩子对中的缺血性儿科中风相关
Jasna Lenicek Krleza1, Desiree Coen Herak2, Ivana Đakovic3
1Department of Laboratory Diagnostcs, Children's Hospital Zagreb, Zagreb, Croatia; Universitas Studiorum Catholica Croatica, Zagreb, Croatia; University of Applied Health Sciences Zagreb, Zagreb, Croatia.
Pediatric neurology
|July 22, 2023
概括
患有缺血儿科中风 (IPS) 的儿童比对照组具有显著更多的遗传血栓友多态. 多重多态性增加了IPS风险,特别是在围产期动脉缺血性中风 (PAIS) 和儿童动脉缺血性中风 (CAIS) 病例中,父亲的贡献显著.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 血液学 血液学 血液学
背景情况:
- 儿科缺血性中风 (IPS) 是一种具有复杂遗传基础的严重疾病.
- 在患有IPS的儿童和他们的父母身上调查遗传性血栓形成症可以揭示风险因素.
研究的目的:
- 为了检查IPS儿童遗传性血栓性多态的频率.
- 将基因分析扩展到小儿中风患者及其家属研究较少的多态.
主要方法:
- 在33名患有IPS的儿童及其父母身上,对11个关键的血栓性多态 (例如,FV-Leiden,MTHFR) 的基因定型.
- 利用心血管疾病条纹测试进行全面的遗传分析.
主要成果:
- 所有患有IPS的儿童都表现出至少一种多态性;超过五种多态性在IPS患者中比对照患者多出三倍 (30%vs. 11%).
- 增加的风险与PAIS (OR=4.17) 和CAIS (OR=7.82) 分组相关.
- 部分遗传匹配在父子对中很常见,在父子对中频率更高.
结论:
- 同时存在多个血栓友好症多重形态显著提高了IPS的风险.
- 对于PAIS与怀孕并发症以及对CAIS与母亲并发症/家族病史的风险增加.
- 父亲遗传的贡献在与遗传血栓相关的IPS风险中显著.
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