缺乏XIII因子:婴儿水头发症的罕见原因
Ahmed Alali1, Thkra Meshal2, Zahraa Alali3
1Faculty of Medicine Mansoura University Mansura Egypt.
Clinical case reports
|October 10, 2025
概括
作为一种罕见的出血障碍,XIII因子缺乏会导致婴儿严重出血. 早期诊断和用等离子体产品治疗对于管理危及生命的疾病,如脑出血和水头至关重要.
科学领域:
- 儿科血液学 儿科血液学
- 神经学 神经学
- 遗传学 遗传学 是一个
背景情况:
- 十三因子缺乏症是一种罕见的遗传性出血障碍.
- 它可以导致严重和危及生命的出血,特别是在婴儿身上.
- 内出血和水头是严重的潜在并发症.
研究的目的:
- 报告一个5个月大的婴儿患有XIII因子缺乏症的病例,该病例呈现出内出血和脑水.
- 突出早期诊断和家族病史在治疗这种罕见疾病中的重要性.
- 强调及时治疗在改善结果中的关键作用.
主要方法:
- 一个5个月大的雌性婴儿的病例介绍,其临床症状是脑内压力升高.
- 诊断工作包括CT扫描显示内出血和脑水.
- 凝血概况显示显著低的XIII因子水平 (25%) 与其他凝血因子的正常水平.
主要成果:
- 患者表现出头部迅速扩大和凸起的体,表明内压力增加.
- 脑电图扫描证实了右侧内出血和脑水.
- 用血制品,抗生素和抗药治疗导致临床改善.
结论:
- 在婴儿中,XIII因子缺乏可以表现为严重的内出血和脑水.
- 早期识别,支持家族病史和及时的实验室诊断,至关重要.
- 用因子替代疗法及时干预对于管理这种罕见的出血障碍和预防致命结果至关重要.
相关概念视频
Disorders of Hemostasis
2.0K
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.
2.0K
Venous Thrombosis III: Interprofessional Care
280
Venous thrombosis requires effective prevention and treatment strategies to improve patient outcomes and reduce potential complications.Prevention StrategiesHealthcare providers must prioritize preventing venous thromboembolism (VTE) for all adult patients upon admission. Interventions depend on bleeding and thrombosis risk, medical history, current medications, diagnoses, planned procedures, and patient preferences. Patients on bed rest should change positions every two hours and, if not...
280
Extrinsic and Intrinsic Pathways of Hemostasis
12.1K
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...
12.1K
Venous Thrombosis I: Introduction
364
Venous thrombosis, the most common disorder of the veins, involves the formation of a thrombus or blood clot associated with vein inflammation. It can be classified as either superficial vein thrombosis or deep vein thrombosis.Superficial Vein Thrombosis: This involves the formation of a thrombus in a superficial vein, usually the greater or lesser saphenous vein. Though less severe than deep vein thrombosis (DVT), SVT can lead to complications if untreated.Deep Vein Thrombosis (DVT): This...
364
Neurulation
45.3K
Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the...
45.3K


