囊性纤维化:一个回顾
1Division of Pulmonary and Sleep Medicine, Department of Pediatrics, University of Washington, Seattle Children's Hospital, Seattle.
JAMA
|June 6, 2023
概括
囊性纤维化是一种遗传性疾病, 新的CFTR调节剂疗法显著改善肺功能,并减少患有特定CFTR基因变异的患者的恶化.
科学领域:
- 肺病学
- 遗传学
- 药理学
背景情况:
- 囊性纤维化 (CF) 是由CFTR基因变异引起的遗传性疾病,影响全球超过89,000人.
- CFTR蛋白的功能障碍导致多器官问题,特别是肺部,导致慢性感染和寿命缩短.
- F508del变种很普遍,影响约85. 5%的美国CF患者,症状通常出现在婴儿期.
结论:
- 像elexacaftor-tezacaftor-ivacaftor这样的CFTR调节剂疗法可以显著改善肺功能并减少肺恶化.
- 大约90%的2岁及以上的CF患者可以从这些先进疗法中受益.
- 持续的研究和多学科的护理对于治疗CF和改善患者的结果至关重要.
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