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本文引用的文献

1
The Newborn Screening Experience of Caregivers of Children With Cystic Fibrosis in the United States: A Cross-Sectional Survey.美国囊性纤维化患儿照料者的新生儿筛查经历:一项横断面调查
Pediatr Pulmonol. 2025 May;60(5):e71110. doi: 10.1002/ppul.71110.
2
Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation.囊性纤维化新生儿筛查:来自美国囊性纤维化基金会的一项基于系统评价的共识指南。
Int J Neonatal Screen. 2025 Apr 2;11(2):24. doi: 10.3390/ijns11020024.
3
Real-world safety profile of elexacaftor/tezacaftor/ivacaftor: a disproportionality analysis using the U.S. FDA adverse event reporting system.依列卡福妥/替扎卡福妥/依伐卡托的真实世界安全性概况:使用美国食品药品监督管理局不良事件报告系统的不成比例性分析
Front Pharmacol. 2025 Mar 12;16:1531514. doi: 10.3389/fphar.2025.1531514. eCollection 2025.
4
Critical Issues in the Management of CRMS/CFSPID Children: A National Real-World Survey.CRMS/CFSPID儿童管理中的关键问题:一项全国性真实世界调查
Pediatr Pulmonol. 2025 Jan;60(1):e27483. doi: 10.1002/ppul.27483.
5
A Three-year Longitudinal Assessment of Pseudomonas aeruginosa Antibiotic Susceptibility in Children With Cystic Fibrosis in the Era of Cystic Fibrosis Transmembrane Conductance Regulator Modulator Therapy.在囊性纤维化跨膜传导调节因子调节剂治疗时代,对囊性纤维化儿童铜绿假单胞菌抗生素敏感性的三年纵向评估。
Pediatr Infect Dis J. 2025 Mar 1;44(3):e77-e80. doi: 10.1097/INF.0000000000004580. Epub 2024 Oct 4.
6
Facilitators and Barriers to Increasing Equity in Cystic Fibrosis Newborn Screening Algorithms.改善囊性纤维化新生儿筛查算法公平性的促进因素和障碍
Pediatr Pulmonol. 2025 Jan;60(1):e27449. doi: 10.1002/ppul.27449. Epub 2024 Dec 20.
7
Cardiometabolic risk factors in adults with cystic fibrosis undergoing elexacaftor/tezacaftor/ivacaftor therapy.接受依列卡福妥/替扎卡福妥/依伐卡托治疗的成年囊性纤维化患者的心脏代谢危险因素。
J Cyst Fibros. 2025 Jan;24(1):53-56. doi: 10.1016/j.jcf.2024.11.009. Epub 2024 Dec 6.
8
Outcomes of prenatal use of elexacaftor/tezacaftor/ivacaftor in carrier mothers to treat meconium ileus in fetuses with cystic fibrosis.产前使用依列卡福妥/替扎卡福妥/依伐卡托在携带相关基因的母亲中治疗患有囊性纤维化胎儿胎粪性肠梗阻的结局。
J Cyst Fibros. 2025 May;24(3):466-468. doi: 10.1016/j.jcf.2024.11.011. Epub 2024 Dec 6.
9
One year of ETI reduces lung bacterial colonisation in adults with cystic fibrosis.使用抗生素治疗 1 年可减少成年囊性纤维化患者肺部细菌定植。
Sci Rep. 2024 Nov 26;14(1):29298. doi: 10.1038/s41598-024-77246-4.
10
Impact of elexacaftor/tezacaftor/ivacaftor on utilization of routine therapies in cystic fibrosis: Danish nationwide register study.依列卡福妥/替扎卡福妥/依伐卡托对囊性纤维化患者常规治疗使用情况的影响:丹麦全国性登记研究
J Cyst Fibros. 2025 Jan;24(1):105-111. doi: 10.1016/j.jcf.2024.11.004. Epub 2024 Nov 24.

2024年囊性纤维化年度回顾

Cystic Fibrosis Year in Review 2024.

作者信息

Savant Adrienne P

机构信息

Department of Pediatrics, Manning Family Children's, New Orleans, Louisiana, USA.

Department of Pediatrics, Tulane University, New Orleans, Louisiana, USA.

出版信息

Pediatr Pulmonol. 2025 Aug;60(8):e71222. doi: 10.1002/ppul.71222.

DOI:10.1002/ppul.71222
PMID:40778614
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12333320/
Abstract

In 2024, important advances for people with cystic fibrosis (CF) were published. Important guidelines for newborn screening and care of infants diagnosed with CF transmembrane conductance regulator (CFTR)-Related Metabolic Syndrome/Cystic Fibrosis Screen Positive Inconclusive Diagnosis (CRMS/CFSPID) were published alongside related key lessons from individual programs. Work continues to improve growth and nutrition and treat pulmonary exacerbations. New position papers on care delivery and the care team in the post-CFTR modulator era were developed next to continued information related to CFTR modulator use on treatment burden simplification and side effects, such as mental health and use during pregnancy. The aim of this review is to provide high-level information that may lead to changes in clinical care.

摘要

2024年,有关囊性纤维化(CF)患者的重要进展得以发表。针对新生儿筛查以及被诊断患有囊性纤维化跨膜传导调节因子(CFTR)相关代谢综合征/囊性纤维化筛查呈阳性但诊断不确定(CRMS/CFSPID)的婴儿护理的重要指南得以发布,同时还公布了各个项目的相关关键经验教训。在改善生长发育和营养状况以及治疗肺部急性加重方面的工作仍在继续。除了持续提供有关CFTR调节剂使用对治疗负担简化和副作用(如心理健康以及孕期使用)的信息外,还制定了关于CFTR调节剂时代护理提供和护理团队的新立场文件。本综述的目的是提供可能导致临床护理发生变化的高级信息。