依伐卡托特用于 p.Ser549Arg（S549R）门控突变 - 以色列经验。
Ivacaftor for the p.Ser549Arg (S549R) gating mutation - The Israeli experience.
机构信息
Pediatric Pulmonary Unit and the National Center for Cystic Fibrosis, Edmond and Lili Safra Children's Hospital, Chaim Sheba Medical Center at Tel Hashomer, Affiliated with Sackler Medical School, Tel Aviv University, Israel.
Cystic Fibrosis Center, Hebrew University Hadassah Medical Center, Jerusalem, Israel.
出版信息
Respir Med. 2017 Oct;131:225-228. doi: 10.1016/j.rmed.2017.08.026. Epub 2017 Sep 1.
BACKGROUND
Ivacaftor is a drug that increases the probability of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel remaining open. Information about the efficacy of ivacaftor in patients carrying the rare p.Ser549Arg (S549R) CFTR mutation is sparse.
AIM
Efficacy of ivacaftor treatment in patients carrying the p.Ser549Arg (S549R) CFTR mutation.
METHODS
Data obtained from CF patients receiving ivacaftor for one year.
RESULTS
Eight CF patients, mean age 21 ± 10 years, received ivacaftor. After one year, significant improvement was found in FEV, increasing from 74% to 88% (p < 0.001), FVC, 89% to 101% (p = 0.019), and FEF, 59%-76% (p = 0.019). Sweat chloride concentration decreased from 116 ± 8 mmol/L to 51 ± 17 mmol/L (p < 0.001), and BMI increased from 20 ± 3 to 22 ± 4 (p = 0.003). Glucose tolerance improved in five patients. There was no significant change in bacterial colonization.
CONCLUSIONS
Ivacaftor therapy resulted in significant clinical improvement in patients carrying the p.Ser549Arg (S549R) CFTR mutation.
背景
依伐卡托是一种能增加囊性纤维化跨膜电导调节因子（CFTR）氯离子通道开放概率的药物。关于依伐卡托治疗罕见的 p.Ser549Arg（S549R）CFTR 突变患者的疗效信息较为匮乏。
目的
评估依伐卡托治疗 p.Ser549Arg（S549R）CFTR 突变患者的疗效。
方法
收集接受依伐卡托治疗一年的 CF 患者的数据。
结果
8 例 CF 患者，平均年龄 21±10 岁，接受依伐卡托治疗。治疗一年后，FEV 显著改善，从 74%增加到 88%（p<0.001），FVC 从 89%增加到 101%（p=0.019），FEF 从 59%-76%增加（p=0.019）。汗液氯化物浓度从 116±8mmol/L 降至 51±17mmol/L（p<0.001），BMI 从 20±3 增至 22±4（p=0.003）。5 例患者的葡萄糖耐量得到改善。细菌定植无显著变化。
结论
依伐卡托治疗可显著改善携带 p.Ser549Arg（S549R）CFTR 突变的患者的临床症状。
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