巴西的CFTR调节器:不适合所有人-不同地区不合格情况的比较
Edna Lúcia D' Souza1, Victor Hugo Valença Bomfim2, Luciana de Freitas Velloso Monte3
1Departamento de Pediatria, Faculdade de Medicina da Bahia, Universidade Federal da Bahia, Salvador, Bahia, Brazil.
Pediatric pulmonology
|March 10, 2026
概括
在巴西观察到高不符合Elexacaftor/Tezacaftor/Ivacaftor (ETI) 的资格,非白人个人更有可能不符合资格. 公共卫生政策必须在囊性纤维化治疗中解决遗传多样性问题.
科学领域:
- 医学遗传学 医学遗传学
- 公共卫生 公共卫生
- 药物基因组学 药物基因组学
背景情况:
- 囊性纤维化 (CF) 影响全球个体,治疗资格因遗传因素而异.
- 埃莱克萨卡夫托/特萨卡夫托/伊瓦卡夫托 (ETI) 和伊瓦卡夫托 (IVA) 是重要的CFTR调制剂疗法.
- 巴西多样化的人口在评估治疗可及性方面提出了独特的挑战.
研究的目的:
- 确定巴西ETI和IVA资格不合格的流行情况.
- 为了比较巴西四个CF中心的资格不合格率.
- 分析种族/民族背景对治疗资格不合格的影响.
主要方法:
- 使用来自巴西CF注册表的数据进行横截面研究.
- 纳入标准:通过CFTR基因变异和/或高汗化物证实了CF诊断.
- 统计分析包括奇平方测试和二进制物流回归.
主要成果:
- 分析了649人;21.26%的人不符合ETI或IVA.
- 种族/种族分布在各个中心和不符合条件的个人之间有很大差异.
- 与白人个人相比,非白人个体的资格不合格可能性比白人个体高20%.
结论:
- 在巴西的各个地区,不论是哪个治疗中心,ETI的不合格率始终很高.
- 巴西的基因型异质性和不同的祖先需要针对CF治疗量身定制的公共卫生政策.
- 解决种族/民族差异对于公平获得CFTR调节器疗法至关重要.
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