儿科患者V因子和VIII因子联合缺乏症:一个病例报告
Yasmine Bendarkawi1,2, Hassane Mamad3,4, Zakia Berchane3,4
1Faculty of Medicine and Pharmacy Laboratoire Central d'Hématologie, Centre Hospitalier Universitaire Ibn Sina de Rabat, Rabat, Morocco. bendarkawi.yasmine@gmail.com.
Journal of medical case reports
|April 28, 2025
概括
本案例研究详细介绍了儿童罕见的凝血因子V和VIII联合缺乏症,强调了对出血障碍的准确诊断的重要性. 早期识别是有效管理这种遗传性疾病的关键.
科学领域:
- 血液学 血液学 血液学
- 遗传学 遗传学 是一个
- 儿科医学 儿科医学
背景情况:
- 组合V和VIII因子缺乏症是一种罕见的自体相衰退性出血障碍.
- 介绍了一个不寻常的案例,一个7岁的摩洛哥儿童没有血缘关系的历史,经历了出血事件.
- 强调了这种罕见遗传疾病的诊断挑战和临床意义.
研究的目的:
- 报告儿童中V和VIII因子联合缺乏症的不寻常病例.
- 为了强调罕见的出血障碍的诊断考虑.
- 为了强调特定的凝血因子测试的重要性.
主要方法:
- 一个7岁男孩的病例介绍,长时间的激活部分血栓形成时间和前血栓时间.
- 使用光学方法在Acl Top 750分析仪上进行的凝血因子测定.
- 在Beckman Coulter DXH 900分析仪上分析完整的血液样本;启动了家庭调查.
主要成果:
- 确认V (12.4%) 和VIII (9.1%) 因素的综合缺乏与其他因子的正常水平.
- 提升激活的部分血栓塑时间 (73.2秒) 和延长的前血栓时间 (18.35秒).
- 除轻微的血栓细胞瘤外,全血细胞计没有异常;正常的·威莱布兰德因子抗原.
结论:
- 组合V和VIII因子缺乏症很少见,经常被误诊为血友病A或V因子缺乏症.
- 差异诊断至关重要,特别是考虑到·维勒布兰德病.
- 在患有长期PT和aPTT以及V因子缺乏症的患者中怀疑这种疾病;建议测量XIII因子.
相关概念视频
01:24Disorders of Hemostasis
656
Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
656
01:30Anticoagulant Drugs: Low-Molecular-Weight Heparins
552
Hemostasis is a crucial process that prevents excessive blood loss from damaged blood vessels. It involves various mechanisms such as vasoconstriction, platelet adhesion and activation, and fibrin formation. The importance of each mechanism depends on the type of vessel injury. In contrast, thrombosis is the abnormal formation of a blood clot within the blood vessels, leading to potential complications if the clot obstructs blood flow. Thrombosis can be caused by increased coagulability of the...
552
01:20Extrinsic and Intrinsic Pathways of Hemostasis
4.2K
Blood clotting or coagulation involves extrinsic and intrinsic pathways, which ultimately merge into the common pathway, forming a fibrin clot.
The Extrinsic Pathway
The extrinsic pathway of coagulation is typically initiated by tissue damage that exposes blood to tissue factor (TF), a protein released by the damaged tissue cells outside the blood vessels—this interaction with TF triggers biochemical reactions involving specific clotting factors. The key player here is Factor VII, which...
The Extrinsic Pathway
The extrinsic pathway of coagulation is typically initiated by tissue damage that exposes blood to tissue factor (TF), a protein released by the damaged tissue cells outside the blood vessels—this interaction with TF triggers biochemical reactions involving specific clotting factors. The key player here is Factor VII, which...
4.2K
01:49Probability Laws
38.3K
Overview
38.3K
01:35Pedigree Analysis
82.5K
Overview
82.5K
01:19X-linked Traits
51.9K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
51.9K