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儿童先天性XIII因子缺乏症的临床概况
Naveen Kanth Nadakuditi1, Elvis Fabian Peters1, Sitalakshmi Subramanian2
1Department of Pediatric Hematology- Oncology & Bone Marrow Transplantation, St. John's Medical College & Hospital, Bangalore, Karnataka, India.
Indian journal of pediatrics
|June 14, 2023
概括
先天性13因子缺乏症 (FXIIID) 是一种罕见的出血障碍. 早期诊断和定期的冷预防对于预防严重出血事件至关重要,例如受影响儿童的内出血.
科学领域:
- 血液学 血液学 血液学
- 儿科医学 儿科医学
- 罕见疾病 罕见疾病
背景情况:
- 先天性13因子缺乏症 (FXIIID) 是一种罕见的自体逆流性出血障碍,发病率低.
- FXIIID呈现出各种不同的临床症状,需要全面了解有效管理.
研究的目的:
- 描述儿童先天性13因子缺乏症的临床症状,诊断方法和管理策略.
- 突出诊断延迟和预防对印度儿童队伍的影响.
主要方法:
- 从2000年1月到2021年10月,对患有FXIIID的儿科患者进行了回顾性图表审查.
- 通过尿素凝块溶解性测试 (UCST) 和XIII因子抗原测定,诊断得到证实.
主要成果:
- 分析了来自16个家庭的20名儿童,男性和女性的比例为1.5:1.
- 观察到诊断的显著延迟 (中位数发病6个月,中位数诊断1年).
- 发现高血缘关系率 (75%);常见的症状包括粘膜和内出血,有长期新生儿带出血史.
结论:
- FXIIID表现出各种出血模式,有明显的内出血风险,通常是第一个表现.
- 印度南部的高患病率与血缘关系有关;定期的冷凝预防对于预防严重的,可能致命的出血是必不可少的和可行的.
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