Cystic fibrosis is a disease of abnormal ion transport through epithelium that results in progressive lung disease as well as the involvement of other organs including the pancreas, gut, and liver. Cystic fibrosis is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR), and inheritance is autosomal recessive, meaning that people with cystic fibrosis carry two CFTR mutations, one on each allele. In general, CFTR mutations cause reduced quantity or function of CFTR protein at the cell surface, but the specific mechanisms leading to CFTR deficiency are quite distinct among different classes of mutations (

中文翻译：

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CFTR调节剂治疗囊性纤维化

囊性纤维化是一种异常的离子通过上皮运输的疾病，会导致进行性肺部疾病以及包括胰腺，肠道和肝脏在内的其他器官受累。囊性纤维化是由编码囊性纤维化跨膜电导调节剂（CFTR）的基因突变引起的，遗传是常染色体隐性遗传，这意味着囊性纤维化患者携带两个CFTR突变，每个等位基因一个。通常，CFTR突变会导致CFTR蛋白在细胞表面的数量或功能降低，但是导致CFTR缺乏的具体机制在不同类别的突变之间却截然不同（