Cystic fibrosis (CF) is the most common life-limiting inherited condition in Caucasians. It is a multisystem autosomal recessive disorder caused by variants in the gene for cystic fibrosis transmembrane conductance regulator (CFTR) protein, a cell-surface localised chloride channel that regulates absorption and secretion of salt and water across epithelia. Until recently, the treatment for CF was predicated on ameliorating and preventing the downstream symptoms of CFTR dysfunction, primarily recurrent respiratory infections and pancreatic exocrine failure. But a new class of therapy—the CFTR modulators, which treat the basic defect and decrease the complications of CF, leads to significantly improved pulmonary function, decreased respiratory infections and improved nutrition. The newest agent, a combination of elexacaftor, tezacaftor and ivacaftor, will be suitable for approximately 90% of all people with CF and is likely to decrease the morbidity and significantly increase the life expectancy for most people with CF. The major barrier to their widespread introduction has been their cost, with many countries unwilling or unable to fund them. Nevertheless, such is their therapeutic efficacy and their likely potent effect on life expectancy that their advent has wider societal implications for the care of children and adults with CF. No data are available.

中文翻译：

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囊性纤维化跨膜电导调节剂用于囊性纤维化：新的曙光？

囊性纤维化 (CF) 是白种人中最常见的限制生命的遗传性疾病。它是一种多系统常染色体隐性遗传病，由囊性纤维化跨膜传导调节蛋白 (CFTR) 蛋白基因变异引起，CFTR 蛋白是一种细胞表面局部氯离子通道，可调节跨上皮细胞对盐和水的吸收和分泌。直到最近，CF 的治疗仍以改善和预防 CFTR 功能障碍的下游症状为基础，主要是反复呼吸道感染和胰腺外分泌衰竭。但是一种新的疗法——CFTR 调节剂，可治疗基本缺陷并减少 CF 的并发症，可显着改善肺功能，减少呼吸道感染并改善营养。最新的代理，由 elexacaftor、tezacaftor 和 ivacaftor 组合而成，将适用于大约 90% 的 CF 患者，并且可能会降低大多数 CF 患者的发病率并显着延长其预期寿命。其广泛引入的主要障碍是成本，许多国家不愿或无法为其提供资金。尽管如此，由于它们的治疗功效和对预期寿命的可能有效影响，它们的出现对 CF 儿童和成人的护理具有更广泛的社会影响。没有可用数据。这就是它们的治疗功效和它们对预期寿命的可能有效影响，它们的出现对 CF 儿童和成人的护理具有更广泛的社会影响。没有可用数据。这就是它们的治疗功效和它们对预期寿命的可能有效影响，它们的出现对 CF 儿童和成人的护理具有更广泛的社会影响。没有可用数据。