Férec C, Scotet V
Inserm, Univ Brest, EFS, UMR 1078, GGB, F-29200 Brest, France; CHU Brest, Hôpital Morvan, Laboratoire de génétique moléculaire et d'histocompatibilité, F-29200 Brest, France.
Inserm, Univ Brest, EFS, UMR 1078, GGB, F-29200 Brest, France.
Arch Pediatr. 2020 Feb;27 Suppl 1:eS4-eS7. doi: 10.1016/S0929-693X(20)30043-9.
Cystic fibrosis (CF) is an autosomal recessive genetic disorder whose responsible gene - the CFTR gene - was discovered 30 years ago by a positional cloning strategy. This gene, which encodes a chloride channel, contains more than 2,000 mutations including a major one (p.Phe508del). This discovery has led to considerable progress in the understanding of the pathophysiology of CF as well as in the management of patients and their families. It has also paved the way for the development of specific therapies for the disease. From an epidemiological point of view, the incidence of CF, which shows loco-regional variations, is now estimated at 1/4,700 live births in France. The face of CF has dramatically changed over the past decades: CF has gradually become a disease of the adult with, today, more than 50% of the patients being 18 years old or more and a median predicted survival age that exceeds 45 years. © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.
囊性纤维化（CF）是一种常染色体隐性遗传病，其致病基因——囊性纤维化跨膜传导调节因子（CFTR）基因——于30年前通过定位克隆策略被发现。该基因编码一种氯离子通道，包含2000多种突变，其中包括一种主要突变（p.Phe508del）。这一发现使人们对CF病理生理学的理解以及对患者及其家庭的管理取得了显著进展。它还为该疾病的特异性治疗方法的开发铺平了道路。从流行病学角度来看，CF的发病率存在地区差异，目前在法国估计为每4700例活产中有1例。在过去几十年中，CF的面貌发生了巨大变化：CF已逐渐成为一种成人疾病，如今超过50%的患者年龄在18岁及以上，预计中位生存年龄超过45岁。© 2020法国儿科学会。由爱思唯尔马松出版社出版。保留所有权利。
