Ronan Nicola J, Fleming Claire, O'Callaghan Grace, Maher Michael M, Murphy Desmond M, Plant Barry J
Cork Adult Cystic Fibrosis Centre; Health Research Board Clinical Research Facility, University College Cork, Cork, Ireland.
Cork Adult Cystic Fibrosis Centre.
Chest. 2015 Sep;148(3):e72-e75. doi: 10.1378/chest.14-3215.
Cystic fibrosis (CF) conductance transmembrane regulator functions as a chloride (Cl-) channel in multiple organs, including the lungs. More than 1,800 disease-associated mutations have been identified, which can be divided into six classes. In patients with CF due to class III gating mutations, ivacaftor produces significant improvement in lung function, weight, reduction in sweat chloride level, and pulmonary exacerbations by enhancing the probability of chloride channel opening (gating). Although the benefit of ivacaftor in CF due to gating mutations is established, its potential role in patients with CF due to class IV conductance mutations is emerging. We report 6 months' prospective stability of lung function, improved BMI, reduced pulmonary exacerbations, and reduction in sweat chloride level in a patient with severe CF and the class IV R117H mutation. High-resolution CT scan also improved, thus highlighting the potential usefulness of ivacaftor in patients with severe CF due to class IV mutations.
囊性纤维化（CF）跨膜传导调节因子在包括肺在内的多个器官中作为氯离子（Cl-）通道发挥作用。已鉴定出1800多种与疾病相关的突变，这些突变可分为六类。在因III类门控突变导致的CF患者中，依伐卡托通过提高氯离子通道开放（门控）的概率，使肺功能、体重显著改善，汗液氯化物水平降低，肺部病情加重次数减少。尽管依伐卡托对因门控突变导致的CF的益处已得到证实，但其在因IV类传导突变导致的CF患者中的潜在作用正在显现。我们报告了一名患有严重CF且携带IV类R117H突变的患者，其肺功能在6个月的前瞻性观察中保持稳定，体重指数改善，肺部病情加重次数减少，汗液氯化物水平降低。高分辨率CT扫描结果也有所改善，从而突出了依伐卡托在因IV类突变导致的严重CF患者中的潜在效用。
