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在患有间歇性遗传性跨甲基素中介性氨基粉症的患者中诊断延迟
Bernardo Antunes1, Isabel Conceição1,2, Catarina Falcão de Campos1,2
1Instituto de Fisiologia, Centro de Estudos Egas Moniz, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.
概括
在零星病例中,遗传性跨甲基素介导性粉症 (ATTRv粉症) 的诊断延迟显著,平均超过一年. 提高临床医生对各种ATTRv粉样性粉症症状的认识,对于早期诊断至关重要.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 罕见疾病 罕见疾病
背景情况:
- 遗传性转基因氨基粉症 (ATTRv氨基粉症) 是一种罕见的,具有多种表现的衰弱性疾病.
- 晚期诊断很常见,特别是在零星的病例中,阻碍了有效的管理.
研究的目的:
- 分析患者中诊断延迟的预测因子,显然是零星的ATTRv氨基粉症.
- 确定导致该患者子组诊断延迟的因素.
主要方法:
- 在参考中心对109名零星ATTRv粉样化症患者进行了回顾性研究.
- 分析从症状发作到诊断的时间,年龄,性别,起源和最初的症状.
- 数十年间的统计比较和用于预测因子识别的后勤回归.
主要成果:
- 诊断延迟的中位数为1262天.
- 在不同十年 (1980年代-2010年代) 中,没有观察到延迟的显著差异.
- 一个趋势表明,女性和没有初始神经症状的患者的延迟时间更长.
结论:
- 在零星的ATTRv粉样性粉症病例中,仍然存在显著的诊断延迟.
- 提高临床医生对各种ATTRv粉样性粉症表现的认识至关重要.
- 强调家族病史和流行病学数据可以改善早期检测.
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