患有囊性纤维化且携带G551D或纯合F508del突变的患者：肺功能下降情况相似。 - Suppr

Patients with Cystic Fibrosis and a G551D or Homozygous F508del Mutation: Similar Lung Function Decline.

作者信息

Sawicki Gregory S, McKone Edward F, Millar Stefanie J, Pasta David J, Konstan Michael W, Lubarsky Barry, Wagener Jeffrey S

机构信息

1 Boston Children's Hospital Boston, Massachusetts.

2 Harvard Medical School Boston, Massachusetts.

出版信息

Am J Respir Crit Care Med. 2017 Jun 15;195(12):1673-1676. doi: 10.1164/rccm.201608-1678LE.

DOI:10.1164/rccm.201608-1678LE

PMID:28617084

Abstract

摘要

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Patients with Cystic Fibrosis and a G551D or Homozygous F508del Mutation: Similar Lung Function Decline.患有囊性纤维化且携带G551D或纯合F508del突变的患者：肺功能下降情况相似。

Am J Respir Crit Care Med. 2017 Jun 15;195(12):1673-1676. doi: 10.1164/rccm.201608-1678LE.

Clinical phenotype of cystic fibrosis patients with the G551D mutation.囊性纤维化患者 G551D 突变的临床表型。

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Impact of MIF gene promoter polymorphism on F508del cystic fibrosis patients.巨噬细胞移动抑制因子（MIF）基因启动子多态性对F508del型囊性纤维化患者的影响。

PLoS One. 2014 Dec 12;9(12):e114274. doi: 10.1371/journal.pone.0114274. eCollection 2014.

Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D.两名囊性纤维化患者均为CFTR外显子11突变G551D的纯合子，其表型存在异质性。

J Med Genet. 1996 Aug;33(8):711-3. doi: 10.1136/jmg.33.8.711.

Year to year change in FEV in patients with cystic fibrosis and different mutation classes.囊性纤维化患者及不同突变类型患者的第一秒用力呼气容积逐年变化。

J Cyst Fibros. 2017 Mar;16(2):239-245. doi: 10.1016/j.jcf.2016.09.009. Epub 2016 Oct 11.

Overweight and obesity in deltaF508 homozygous cystic fibrosis.ΔF508纯合型囊性纤维化患者的超重与肥胖

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Ivacaftor in a G551D homozygote with cystic fibrosis.依伐卡托用于治疗一名患有囊性纤维化的G551D纯合子患者。

N Engl J Med. 2013 Sep 26;369(13):1280-2. doi: 10.1056/NEJMc1213681.

Lung function decline is delayed but not decreased in patients with cystic fibrosis and the R117H gene mutation.囊性纤维化患者和 R117H 基因突变患者的肺功能下降延迟但不减少。

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Sustained Benefit from ivacaftor demonstrated by combining clinical trial and cystic fibrosis patient registry data.临床试验和囊性纤维化患者注册数据相结合证明伊伐卡托持续获益。

Am J Respir Crit Care Med. 2015 Oct 1;192(7):836-42. doi: 10.1164/rccm.201503-0578OC.

Cystic fibrosis co-existing with trisomy 21.囊性纤维化合并 21 三体。

J Cyst Fibros. 2010 Sep;9(5):330-1. doi: 10.1016/j.jcf.2010.05.003. Epub 2010 Jun 11.

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Long-term impact of ivacaftor on mortality rate and health outcomes in people with cystic fibrosis.依伐卡托对囊性纤维化患者死亡率和健康结果的长期影响。

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Using Negative Control Outcomes and Difference-in-Differences Analysis to Estimate Treatment Effects in an Entirely Treated Cohort: The Effect of Ivacaftor in Cystic Fibrosis.利用阴性对照结局和双重差分分析在全治疗队列中估计治疗效果：依伐卡托特在囊性纤维化中的作用。

Am J Epidemiol. 2022 Feb 19;191(3):505-515. doi: 10.1093/aje/kwab263.

Real-World Outcomes of Ivacaftor Treatment in People with Cystic Fibrosis: A Systematic Review.依伐卡托治疗囊性纤维化患者的真实世界结局：一项系统评价

J Clin Med. 2021 Apr 6;10(7):1527. doi: 10.3390/jcm10071527.

Long term clinical effectiveness of ivacaftor in people with the G551D CFTR mutation.G551D 突变型 CFTR 患者使用伊伐卡托的长期临床疗效。

J Cyst Fibros. 2021 Mar;20(2):213-219. doi: 10.1016/j.jcf.2020.11.008. Epub 2020 Nov 25.

Patient-reported outcomes in patients with cystic fibrosis with a G551D mutation on ivacaftor treatment: results from a cross-sectional study.依伐卡托特治疗囊性纤维化伴 G551D 突变患者的患者报告结局：一项横断面研究的结果。

BMC Pulm Med. 2019 Aug 13;19(1):146. doi: 10.1186/s12890-019-0887-6.

Data from the US and UK cystic fibrosis registries support disease modification by CFTR modulation with ivacaftor.来自美国和英国囊性纤维化注册中心的数据支持 CFTR 调节剂 ivacaftor 对疾病的修饰作用。

Thorax. 2018 Aug;73(8):731-740. doi: 10.1136/thoraxjnl-2017-210394. Epub 2018 May 10.

Poor recovery from a pulmonary exacerbation does not lead to accelerated FEV decline.肺部病情加重后恢复不佳不会导致第一秒用力呼气容积加速下降。

J Cyst Fibros. 2017 Jul 29. doi: 10.1016/j.jcf.2017.07.003.

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Patients with Cystic Fibrosis and a G551D or Homozygous F508del Mutation: Similar Lung Function Decline.

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