密码性中风中的法布里病的患病率:系统性审查和元分析与元回归
Pedro Lucas Machado Magalhães1, Ocílio Ribeiro Gonçalves2, Othon Trevisan Meira3
1Faculty of Medicine, Institute of Medical Education, Angra dos Reis, Rio de Janeiro, Brazil. pedrolucas.magalhaes@icloud.com.
Journal of neurology
|October 22, 2025
概括
费布里病 (FD) 是密码性中风 (CS) 的罕见原因,影响1.3%的患者. 在具有特定症状的年轻男性中早期检测对于更好的管理至关重要.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 罕见疾病 罕见疾病
背景情况:
- 密码性中风 (CS) 是一种来源不明的中风,尤其在年轻人中.
- 由于GLA突变而导致的X链 lysosomal储存障碍法布里病 (FD) 是一种潜在的,但不确定的,导致CS的原因.
- FD导致alpha-galactosidase A缺乏,全球基胺的积累,以及脑血管事件.
研究的目的:
- 确定密码性中风 (CS) 患者中法布里病 (FD) 的患病率.
- 在经历CS的人中描述FD的临床表现.
主要方法:
- 对评估成年CS患者FD的研究进行了系统审查和元分析.
- 在主要数据库 (PubMed,Embase,Web of Science,Scopus) 进行了搜索,截至2025年1月.
- 使用随机效应模型计算了聚合流行率,用I平方和元回归来评估异质性.
主要成果:
- 分析了包括7048名患者的16项研究.
- 在CS中,FD的综合流行率为1.3% (95% CI 0.75-2.32%).
- 在FD阳性个体中,关键表现包括低水症 (15.9%),腹障碍 (8.9%),疼痛危机 (6.0%),血管癌 (3.7%) 和角膜垂直 (1.9%). 男性的性别是一个重要的预测因素.
结论:
- 法布里病代表了密码性中风病例中很小但很大的比例.
- 在表现出特定症状的年轻男性中进行有针对性的查可能会提高早期FD检测.
- 建议采用标准化诊断方法,以成本有效地识别和管理CS中的FD.
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