Carter Suzanne C, McKone Edward F
National Referral Centre for Adult Cystic Fibrosis, St. Vincent's University Hospital, Elm Park, Dublin 4, Ireland.
Pharmacogenomics. 2016 Aug;17(13):1453-63. doi: 10.2217/pgs.16.25. Epub 2016 Aug 4.
Cystic fibrosis (CF) is genetic autosomal recessive disease caused by reduced or absent function of CFTR protein. Treatments for patients with CF have primarily focused on the downstream end-organ consequences of defective CFTR. Since the discovery of the CFTR gene that causes CF in 1989 there have been tremendous advances in our understanding of the genetics and pathophysiology of CF. This has recently led to the development of new CFTR mutation-specific targeted therapies for select patients with CF. This review will discuss the characteristics of the CFTR gene, the CFTR mutations that cause CF and the new mutation specific pharmacological treatments including gene therapy that are contributing to the dawning of a new era in cystic fibrosis care.
囊性纤维化（CF）是一种常染色体隐性遗传病，由囊性纤维化跨膜传导调节蛋白（CFTR）功能降低或缺失引起。CF患者的治疗主要集中在CFTR缺陷导致的下游终末器官后果上。自1989年发现导致CF的CFTR基因以来，我们对CF的遗传学和病理生理学的理解取得了巨大进展。这最近导致了针对特定CFTR突变的新型靶向疗法的开发，用于特定的CF患者。本综述将讨论CFTR基因的特征、导致CF的CFTR突变以及新的突变特异性药物治疗，包括基因治疗，这些都为囊性纤维化治疗新时代的到来做出了贡献。
