囊性纤维化及其治疗方法的研究进展

Research progress of cystic fibrosis and its therapies

囊性纤维化(cystic fibrosis,CF)是一种慢性、可致命的、多发于高加索人种的常染色体隐性遗传病,是由囊性纤维化跨膜电导调节因子(cystic fibrosis transmembrane conductance regulator,CFTR)基因突变导致CFTR蛋白功能缺陷或缺失所致。囊性纤维化在临床通常伴随多种并发症,患者主要表现为呼吸系统异常,如肺部反复感染,最终导致肺功能衰竭而死亡。近年来,随着对囊性纤维化发病机制研究的不断深入,其有效治疗方法有了迅速发展。本文就囊性纤维化的致病原因、给药方法、药物作用机制及新型囊性纤维化治疗药物的研究进行综述,为囊性纤维化的治疗提供参考。

Cystic fibrosis(CF)is a common and life-threatening autosomal recessive disorder in Caucasians populations.The disease is caused by mutations in the cystic fibrosis transmembrane conductance regulator(CFTR)gene.The absence of mature CFTR at the correct cellular location or dysfunction of CFTR proteins has been observed in CF patients.CF is frequently accompanied by a variety of complex complications,such as impairments in pulmonary functions,which may lead to successive infections and respiratory failure.Recently,with the understanding of the pathogenesis of CF,a wide array of therapeutic strategies for the treatment of CF has been designed.This review summarizes pathogenic mechanisms of CF,mechanisms of action of drugs,routes of administration,and new drug development as well as provides insights into the advanced treatment strategies for CF.