摩洛哥婴儿的XIII因子缺乏:一种罕见的出血疾病的病例报告
Khadija Mesbah1, Yousra El Boussaadni1, Abdallah Oulmaati1
1Pediatrics, Centre Hospitalier Universitaire Mohammed VI de Tanger, Tangier, MAR.
Cureus
|February 12, 2026
概括
十三因子缺乏症 (FXIIID) 是一种罕见的出血障碍. 早期诊断FXIIID对于预防严重出血至关重要,特别是在婴儿身上,因为标准测试可能是正常的.
科学领域:
- 血液学 血液学 血液学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 十三因子缺乏症 (FXIIID) 是一种罕见的自体逆性遗传性出血障碍.
- 在XIII因子的突变导致血块形成受损,导致出血和胎儿损失.
- FXIII对于伤口愈合,血管生成和维持胎儿活力至关重要.
研究的目的:
- 突出XIII因子缺乏症的诊断挑战.
- 强调早期诊断对于预防严重出血并发症的重要性.
- 报告一个先天性FXIII缺乏症的病例,诊断为患有割礼后出血的婴儿.
主要方法:
- 对先天性XIII因子缺乏症病例的临床表现和诊断工作的审查.
- 在诊断FXIIID时讨论标准凝血测试的局限性.
- 强调需要进行特定的XIII因素测试,特别是在资源有限的环境中.
主要成果:
- 标准凝血试验正常,延迟了XIII因子缺乏症的诊断.
- 特定XIII因子测试证实了婴儿出血的诊断.
- 这一案例强调了未被诊断的FXIIID中可能出现严重出血,包括内出血.
结论:
- 遗传性XIII因子缺乏症需要除了常规的凝血查之外进行特定的诊断测试.
- 及时诊断和管理对于预防FXIIID患者危及生命的出血至关重要.
- 需要提高对FXIII测试的认识和可访问性,特别是在发展中国家.
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