N1303K CFTR变异导致的囊性纤维化且感染了……的个体的CFTR调节剂疗法
CFTR Modulator Therapy in an Individual With Cystic Fibrosis Caused by a N1303K CFTR Variant and Infected With .
作者信息
Elson E Claire, Capel Paula, Haynes Jessica, Duehlmeyer Stephanie, Fischer Michelle, Escobar Hugo
机构信息
Children's Mercy, Kansas City, MO.
出版信息
J Pediatr Pharmacol Ther. 2022;27(4):396-399. doi: 10.5863/1551-6776-27.4.396. Epub 2022 May 9.
Abstract
This report describes a case of a 15-year-old male with cystic fibrosis caused by N1303K and Q493X cystic fibrosis transmembrane conductance regulator (CFTR) protein variants. In this case, CFTR modulators including tezacaftor-ivacaftor and subsequently elexacaftor-tezacaftor-ivacaftor were used and resulted in clinical stability and improvement.
摘要
本报告描述了一名15岁男性病例，其患有由N1303K和Q493X囊性纤维化跨膜传导调节因子（CFTR）蛋白变体引起的囊性纤维化。在该病例中，使用了包括替扎考托-依伐卡托以及随后的依列卡托-替扎考托-依伐卡托在内的CFTR调节剂，结果实现了临床稳定和改善。
相似文献
1
CFTR Modulator Therapy in an Individual With Cystic Fibrosis Caused by a N1303K CFTR Variant and Infected With .N1303K CFTR变异导致的囊性纤维化且感染了……的个体的CFTR调节剂疗法
J Pediatr Pharmacol Ther. 2022;27(4):396-399. doi: 10.5863/1551-6776-27.4.396. Epub 2022 May 9.
2
Response to Elexacaftor/Tezacaftor/Ivacaftor in people with cystic fibrosis with the N1303K mutation: Case report and review of the literature.携带N1303K突变的囊性纤维化患者对依列卡福/替扎卡福/依伐卡福的反应：病例报告及文献综述
Heliyon. 2024 Feb 28;10(5):e26955. doi: 10.1016/j.heliyon.2024.e26955. eCollection 2024 Mar 15.
3
Efficacy and safety of elexacaftor plus tezacaftor plus ivacaftor versus tezacaftor plus ivacaftor in people with cystic fibrosis homozygous for F508del-CFTR: a 24-week, multicentre, randomised, double-blind, active-controlled, phase 3b trial.依列卡福妥联合替扎卡福妥和依伐卡托对比替扎卡福妥联合依伐卡托治疗F508del-CFTR纯合子囊性纤维化患者的疗效和安全性：一项为期24周的多中心、随机、双盲、活性对照3b期试验
Lancet Respir Med. 2022 Mar;10(3):267-277. doi: 10.1016/S2213-2600(21)00454-9. Epub 2021 Dec 20.
4
Triple Therapy for Cystic Fibrosis -Gating and -Residual Function Genotypes.囊性纤维化-门控和-残留功能基因型的三联疗法。
N Engl J Med. 2021 Aug 26;385(9):815-825. doi: 10.1056/NEJMoa2100665.
5
Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial.在纯合子 F508del 突变的囊性纤维化患者中，elexacaftor 加 tezacaftor 加 ivacaftor 联合治疗方案的疗效和安全性：一项双盲、随机、3 期临床试验。
Lancet. 2019 Nov 23;394(10212):1940-1948. doi: 10.1016/S0140-6736(19)32597-8. Epub 2019 Oct 31.
6
Novel CFTR modulator combinations maximise rescue of G85E and N1303K in rectal organoids.新型CFTR调节剂组合可最大限度地挽救直肠类器官中的G85E和N1303K。
ERJ Open Res. 2022 Apr 19;8(2). doi: 10.1183/23120541.00716-2021. eCollection 2022 Apr.
7
The preclinical discovery and development of the combination of ivacaftor + tezacaftor used to treat cystic fibrosis.用于治疗囊性纤维化的依伐卡托+替扎卡托组合的临床前发现与开发。
Expert Opin Drug Discov. 2020 Aug;15(8):873-891. doi: 10.1080/17460441.2020.1750592. Epub 2020 Apr 15.
8
The rescue of F508del-CFTR by elexacaftor/tezacaftor/ivacaftor (Trikafta) in human airway epithelial cells is underestimated due to the presence of ivacaftor.由于依伐卡托的存在，在人气道上皮细胞中，艾列卡托/替扎卡托/依伐卡托（三联疗法）对F508del-CFTR的挽救作用被低估了。
Eur Respir J. 2022 Feb 24;59(2). doi: 10.1183/13993003.00671-2021. Print 2022 Feb.
9
Elexacaftor-Tezacaftor-Ivacaftor: The First Triple-Combination Cystic Fibrosis Transmembrane Conductance Regulator Modulating Therapy.依列卡福妥-替扎卡福妥-依伐卡托：首个三联组合型囊性纤维化跨膜传导调节因子调控疗法
J Pediatr Pharmacol Ther. 2020;25(3):192-197. doi: 10.5863/1551-6776-25.3.192.
10
Elexacaftor/Ivacaftor/Tezacaftor: First Approval.依伐卡托/埃乐卡福特/泰泽卡福特：首次批准。
Drugs. 2019 Dec;79(18):2001-2007. doi: 10.1007/s40265-019-01233-7.
引用本文的文献
1
Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer.囊性纤维化跨膜传导调节因子（CFTR）基因中的功能变异与结直肠癌风险增加相关。
Hum Mol Genet. 2025 Mar 20;34(7):617-625. doi: 10.1093/hmg/ddaf007.
2
Comprehensive Assessment of Modulators' Therapeutic Efficiency for N1303K Variant.N1303K变体调节剂治疗效果的综合评估
Int J Mol Sci. 2024 Feb 27;25(5):2770. doi: 10.3390/ijms25052770.
3
Response to Elexacaftor/Tezacaftor/Ivacaftor in people with cystic fibrosis with the N1303K mutation: Case report and review of the literature.携带N1303K突变的囊性纤维化患者对依列卡福/替扎卡福/依伐卡福的反应：病例报告及文献综述
Heliyon. 2024 Feb 28;10(5):e26955. doi: 10.1016/j.heliyon.2024.e26955. eCollection 2024 Mar 15.
4
Personalized CFTR Modulator Therapy for and Homozygous Patients with Cystic Fibrosis.囊性纤维化跨膜传导调节因子个体化调节剂治疗和纯合子患者。
Int J Mol Sci. 2023 Aug 2;24(15):12365. doi: 10.3390/ijms241512365.
5
Elexacaftor-Tezacaftor-Ivacaftor: A Life-Changing Triple Combination of CFTR Modulator Drugs for Cystic Fibrosis.依列卡福妥-替扎卡福妥-依伐卡托：用于囊性纤维化的改变人生的三联组合CFTR调节剂药物。
Pharmaceuticals (Basel). 2023 Mar 8;16(3):410. doi: 10.3390/ph16030410.
本文引用的文献
1
Elexacaftor/Tezacaftor/Ivacaftor Improved Clinical Outcomes in a Patient with N1303K-CFTR Based on Experimental Evidence.基于实验证据，依列卡福妥/替扎卡福妥/依伐卡福妥改善了一名携带N1303K-CFTR突变的患者的临床结局。
Am J Respir Crit Care Med. 2021 Nov 15;204(10):1231-1235. doi: 10.1164/rccm.202101-0090LE.
2
Rescue of multiple class II CFTR mutations by elexacaftor+tezacaftor+ivacaftor mediated in part by the dual activities of elexacaftor as both corrector and potentiator.依利卓（elexacaftor）作为矫正剂和增强剂的双重作用部分介导了依利卓（elexacaftor）联合泰比培南（tezacaftor）和 ivacaftor 对多种 II 类 CFTR 突变的挽救。
Eur Respir J. 2021 Jun 17;57(6). doi: 10.1183/13993003.02774-2020. Print 2021 Jun.
3
Allosteric folding correction of F508del and rare CFTR mutants by elexacaftor-tezacaftor-ivacaftor (Trikafta) combination.三药复方（Trikafta）依利卓艾他康唑/艾美拉唑/卡博替尼（elexacaftor-tezacaftor-ivacaftor）对 F508del 及罕见 CFTR 突变体的别构折叠校正。
JCI Insight. 2020 Sep 17;5(18):139983. doi: 10.1172/jci.insight.139983.
4
From Ivacaftor to Triple Combination: A Systematic Review of Efficacy and Safety of CFTR Modulators in People with Cystic Fibrosis.从 Ivacaftor 到三联组合：囊性纤维化患者 CFTR 调节剂疗效和安全性的系统评价。
Int J Mol Sci. 2020 Aug 16;21(16):5882. doi: 10.3390/ijms21165882.
5
Ivacaftor in cystic fibrosis with residual function: Lung function results from an N-of-1 study.依伐卡托特在有残留功能的囊性纤维化中的应用：一项 N-of-1 研究的肺功能结果。
J Cyst Fibros. 2020 Jan;19(1):91-98. doi: 10.1016/j.jcf.2019.09.013. Epub 2019 Nov 26.
6
Physiological and pharmacological characterization of the N1303K mutant CFTR.N1303K 突变 CFTR 的生理和药理学特性。
J Cyst Fibros. 2018 Sep;17(5):573-581. doi: 10.1016/j.jcf.2018.05.011. Epub 2018 Jun 7.
7
In vivo and in vitro ivacaftor response in cystic fibrosis patients with residual CFTR function: N-of-1 studies.具有残余CFTR功能的囊性纤维化患者的体内和体外依伐卡托反应：单病例研究。
Pediatr Pulmonol. 2017 Apr;52(4):472-479. doi: 10.1002/ppul.23659. Epub 2017 Jan 9.
8
US Cystic Fibrosis Foundation and European Cystic Fibrosis Society consensus recommendations for the management of non-tuberculous mycobacteria in individuals with cystic fibrosis.美国囊性纤维化基金会和欧洲囊性纤维化协会关于囊性纤维化患者非结核分枝杆菌管理的共识建议。
Thorax. 2016 Jan;71 Suppl 1(Suppl 1):i1-22. doi: 10.1136/thoraxjnl-2015-207360.
Zotero 插件