Department of Respiratory Medicine and National Cystic Fibrosis Reference Centre, Cochin Hospital, Assistance Publique Hôpitaux de Paris, 27 rue du faubourg Saint-Jacques, 75014 Paris, France; Université Paris Cité, Inserm U1016, Institut Cochin, 24 rue du faubourg Saint-Jacques, 75014 Paris, France; ERN-LUNG, CF Core Network, Frankfurt, Germany.
Presse Med. 2023 Sep;52(3):104169. doi: 10.1016/j.lpm.2023.104169. Epub 2023 Jul 27.
Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by variants in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. CFTR dysfunction results in abnormal chloride and bicarbonate transport in epithelial cells, leading to a multiorgan disease dominated by respiratory and digestive manifestations. The respiratory disease, which is characterized by airway mucus plugging, chronic bacterial infection and progressive development of bronchiectasis, may lead to chronic respiratory failure, which is the main cause of premature death in people with CF. Over the past 50 years, major progress has been obtained by implementing multidisciplinary care, including nutritional support, airway clearance techniques and antibiotics in specialized CF centers. The past 10 years have further seen the progressive development of oral medications, called CFTR modulators, that partially restore ion transport and lead to a major improvement in clinical manifestations and lung function, presumably resulting in longer survival. Although an increasing proportion of people with CF are being treated with CFTR modulators, challenges remain regarding access to CFTR modulators due to their high cost, and their lack of marketing approval and/or effectiveness in people with rare CFTR variants. The anticipated increase in the number of adults with CF and their aging also challenge the current organization of CF care. The purpose of this review article is to describe current status and future perspective of CF disease and care.
囊性纤维化（CF）是一种常染色体隐性遗传疾病，由编码囊性纤维化跨膜电导调节蛋白（CFTR）的基因突变引起。CFTR 功能障碍导致上皮细胞中氯离子和碳酸氢根离子转运异常，导致以呼吸道和消化道表现为主的多器官疾病。呼吸道疾病的特征是气道黏液堵塞、慢性细菌感染和支气管扩张的进行性发展，可能导致慢性呼吸衰竭，这是 CF 患者过早死亡的主要原因。在过去的 50 年中，通过在专门的 CF 中心实施多学科护理，包括营养支持、气道清除技术和抗生素，取得了重大进展。在过去的 10 年中，进一步开发了口服药物，称为 CFTR 调节剂，这些药物部分恢复了离子转运，并导致临床表现和肺功能的显著改善，可能导致生存时间延长。尽管越来越多的 CF 患者接受 CFTR 调节剂治疗，但由于其高昂的成本，以及在 CFTR 罕见变异患者中缺乏市场批准和/或有效性，获得 CFTR 调节剂仍然存在挑战。预计 CF 患者中成年人的数量增加及其老龄化也对 CF 护理的现有组织构成挑战。本文的目的是描述 CF 疾病和护理的现状和未来展望。
