在一个正常的凝血测试的女性中,下血瘤
Sajjad Ataei-Azimi1, Mettine H A Bos2, Hossein Rahimi1
1Hematology and Oncology Section, Department of Internal Medicine, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
Case reports in hematology
|September 8, 2025
概括
十三因子 (FXIII) 缺乏导致出血障碍,常常被标准凝块溶解性测试遗漏. 定量FXIII活性测定对于准确诊断这种罕见的凝血病至关重要.
科学领域:
- 血液学 血液学 血液学
- 凝血障碍 凝血障碍 凝血障碍
背景情况:
- 十三因子 (FXIII) 缺乏是一种罕见的凝血病,通过损害纤维素凝块稳定影响血静.
- 临床表现包括各种出血表现,通常与正常的初级静血查测试.
研究的目的:
- 突出XIII因子缺乏症的诊断挑战.
- 强调凝块溶解性测试的局限性和定量测试的必要性.
主要方法:
- 一个11岁的女性患有内出血和前史出血的案例介绍.
- 通过凝块溶解性测试 (5-摩尔尿素) 进行初始查,结果正常.
- 使用染色体检测 (CS-5100系统) 量化评估FXIII活性.
主要成果:
- 患者呈现出严重出血症状,但凝块溶解性测试正常.
- 定量FXIII活动显著下降,为12.4%.
- 这种差异强调了对FXIII缺乏的凝块溶解性测试的不敏感性.
结论:
- 准确诊断FXIII缺乏症需要一种综合方法,包括凝块溶解性测试和定量FXIII活性测量.
- 凝块稳定性测试虽然简单,但有局限性,可能无法检测出所有病例.
- 完整的临床病史和具体的定量测试对于诊断FXIII缺乏症至关重要.
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