Cystic fibrosis.

IF 76.9 1区 医学 Q1 MEDICINE, GENERAL & INTERNAL Nature Reviews Disease Primers Pub Date : 2024-08-08 DOI:10.1038/s41572-024-00538-6
Marcus A Mall, Pierre-Régis Burgel, Carlo Castellani, Jane C Davies, Matthias Salathe, Jennifer L Taylor-Cousar
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Abstract

Cystic fibrosis is a rare genetic disease caused by mutations in CFTR, the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR). The discovery of CFTR in 1989 has enabled the unravelling of disease mechanisms and, more recently, the development of CFTR-directed therapeutics that target the underlying molecular defect. The CFTR protein functions as an ion channel that is crucial for correct ion and fluid transport across epithelial cells lining the airways and other organs. Consequently, CFTR dysfunction causes a complex multi-organ disease but, to date, most of the morbidity and mortality in people with cystic fibrosis is due to muco-obstructive lung disease. Cystic fibrosis care has long been limited to treating symptoms using nutritional support, airway clearance techniques and antibiotics to suppress airway infection. The widespread implementation of newborn screening for cystic fibrosis and the introduction of a highly effective triple combination CFTR modulator therapy that has unprecedented clinical benefits in up to 90% of genetically eligible people with cystic fibrosis has fundamentally changed the therapeutic landscape and improved prognosis. However, people with cystic fibrosis who are not eligible based on their CFTR genotype or who live in countries where they do not have access to this breakthrough therapy remain with a high unmet medical need.

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囊性纤维化
囊性纤维化是一种罕见的遗传病,由囊性纤维化跨膜传导调节器(CFTR)的编码基因 CFTR 突变引起。1989 年 CFTR 的发现使人们得以揭开疾病机理的面纱,并在最近开发出了针对潜在分子缺陷的 CFTR 定向疗法。CFTR 蛋白具有离子通道的功能,是正确运输离子和液体通过呼吸道和其他器官上皮细胞的关键。因此,CFTR 功能障碍会导致复杂的多器官疾病,但迄今为止,囊性纤维化患者的发病率和死亡率大多是由粘液阻塞性肺病引起的。长期以来,囊性纤维化的治疗仅限于使用营养支持、气道清除技术和抗生素抑制气道感染来治疗症状。随着新生儿囊性纤维化筛查的广泛开展,以及高效的 CFTR 调节剂三联疗法的推出,高达 90% 符合基因条件的囊性纤维化患者获得了前所未有的临床疗效,这从根本上改变了治疗格局,改善了预后。然而,根据 CFTR 基因型不符合条件的囊性纤维化患者或生活在无法获得这种突破性疗法的国家的囊性纤维化患者仍有大量医疗需求未得到满足。
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来源期刊
Nature Reviews Disease Primers
Nature Reviews Disease Primers Medicine-General Medicine
CiteScore
76.70
自引率
0.20%
发文量
75
期刊介绍: Nature Reviews Disease Primers, a part of the Nature Reviews journal portfolio, features sections on epidemiology, mechanisms, diagnosis, management, and patient quality of life. The editorial team commissions top researchers — comprising basic scientists and clinical researchers — to write the Primers, which are designed for use by early career researchers, medical students and principal investigators. Each Primer concludes with an Outlook section, highlighting future research directions. Covered medical specialties include Cardiology, Dermatology, Ear, Nose and Throat, Emergency Medicine, Endocrinology, Gastroenterology, Genetic Conditions, Gynaecology and Obstetrics, Hepatology, Haematology, Infectious Diseases, Maxillofacial and Oral Medicine, Nephrology, Neurology, Nutrition, Oncology, Ophthalmology, Orthopaedics, Psychiatry, Respiratory Medicine, Rheumatology, Sleep Medicine, and Urology.
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