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Updated: Jan 22, 2026

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患有遗传性疾病的儿童的出血障碍:叙述性综述
Raphaelle Cagol1, Mariam Sbeity Barakat1, Marjolaine Willems2
1Department of Pediatric Oncology and Hematology, University of Montpellier, CHU de Montpellier, Montpellier, France.
Acta paediatrica (Oslo, Norway : 1992)
|January 20, 2026
概括
患有遗传性疾病的儿童往往由于血液静止功能障碍导致出血问题. 这份综述强调了与出血有关的遗传综合征,强调了血小板功能障碍,并建议进行凝血查以更好地管理.
科学领域:
- 儿科血液学 儿科血液学
- 临床遗传学 临床遗传学
- 血液静止和血栓形成
背景情况:
- 患有遗传性疾病的儿童面临更高的出血并发症风险.
- 识别静血性疾病对于预防和管理出血事件至关重要.
- 遗传综合征可以显著地使儿童易患出血症.
研究的目的:
- 提供综合性综合征的遗传综合征,导致儿童出血由于血静功能障碍.
- 整合关于这些综合征的临床和实验室发现的信息.
- 阐明受影响的儿科人口中血液静止障碍的机制.
主要方法:
- 利用人类现象型本体学来识别相关的遗传综合征.
- 进行了全面的文献审查,以收集关于临床和实验室发现的数据.
- 总结了与每个确定的遗传综合征相关的静血异常.
主要成果:
- 确定了与出血性透析相关的18种遗传性疾病.
- 血小板功能障碍是17种疾病中最常见的出血原因.
- 在四种疾病中发现了凝血因子缺陷,其中六种疾病具有严重出血风险.
结论:
- 在儿科遗传疾病中早期识别出血静态异常可以改善临床管理.
- 对于被诊断患有这些特定遗传综合征的儿童,建议进行系统的凝血查.
- 了解这些联系有助于制定有针对性的预防策略和降低风险.
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