The use of ivacaftor in CFTR mutations resulting in residual functioning protein
The use of ivacaftor in CFTR mutations resulting in residual functioning protein
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DOI：
10.1016/j.rmcr.2016.10.012
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发表时间：
2016-01-01
影响因子：
1.1
通讯作者：
Cohen, R. I.
中科院分区：
文献类型：
--
作者：
Guigui, S.;Wang, J.;Cohen, R. I.
简介：依伐卡托是一种囊性纤维化跨膜调节因子（CFTR）增效剂，目前已被批准用于患有III类门控突变和R117 H突变（一种具有残余功能CFTR的非门控突变）的个体。然而，ivacaftor也可能对具有CF突变的个体有效，从而产生残留的功能蛋白。然而，除了涉及单个患者的病例报告外，几乎没有关于在这些个体中使用ivacaftor的数据。方法：一个真实的生活务实的报告，其中7名成年人与突变导致CFTR与残留功能规定ivacaftor。四个具有相似突变的个体作为对照。我们评估肺功能，体重指数，汗氯化物;急性呼吸道疾病加重和健康相关的生活quality of life.Results：患者残余功能CFTR显示出显着改善或稳定的所有参数长达3年后开始ivacaftor。那些具有类似的突变，谁没有收到ivacaftor恶化。结论：我们报告使用ivacaftor在7个成年人与各种IV类和V非门控CFTR突变与残留功能蛋白，我们证明改善几个临床参数。(C)2016作者爱思唯尔有限公司出版
Introduction: Ivacaftor, a cystic fibrosis transmembrane regulator (CFTR) potentiator is currently approved for use in individuals with class III gating mutations and the R117H mutation, a non-gating mutation with residual functioning CFTR. Nevertheless, ivacaftor may also be effective in individuals who have CF mutations giving rise to a residual functioning protein. However, aside from case reports involving a single patient, little data exist on the use of ivacaftor in such individuals.Methods: A real life pragmatic report wherein seven adults with mutations resulting in a CFTR with residual function were prescribed ivacaftor. Four individuals with similar mutations acted as comparison. We assessed lung function, body mass index, sweat chloride; the number of acute respiratory exacerbations and health related quality of life.Results: Patients with residual functioning CFTR showed significant improvement or stabilization in all parameters up to 3 years following the start of ivacaftor. Those with similar mutations and who did not receive ivacaftor worsened.Conclusion: We report the use of ivacaftor in seven adults with various Class IV and V non-gating CFTR mutation with residual functioning protein and we demonstrate improvement in several clinical parameters. (C) 2016 The Authors. Published by Elsevier Ltd.