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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.

DOI:10.5863/1551-6776-27.4.396
PMID:35558347
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9088447/
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。

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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
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引用本文的文献

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本文引用的文献

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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。
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Int J Mol Sci. 2020 Aug 16;21(16):5882. doi: 10.3390/ijms21165882.
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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.
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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.
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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.