囊性纤维化的诊断与治疗进展  

Research progress in diagnosis and treatment of cystic fibrosis

作　　者：郭伟[1] Guo Wei(Department of Respiration,Tianjin Children＇s Hospital,Tianjin 300134,China)

机构地区：[1]天津市儿童医院呼吸科,300134

出　　处：《中华实用儿科临床杂志》2018年第14期1118-1120,共3页Chinese Journal of Applied Clinical Pediatrics

摘　　要：囊性纤维化（CF）是多系统受累的遗传性疾病，主要由囊性纤维化跨膜转导调节蛋白基斟突变所致。该病的防治关键在于早期诊断、早期治疗。随着分子遗传学的发展，CF的检出率大大提高，甚至新生儿期就可以做出诊断。新近研发的药物和综合治疗方法极大地延长了患者的生存时间，对该病也有了新的认识，为本病的早期诊断和治疗提供了可能。现对CF的诊断方法和治疗进展作一综述。Cystic fibrosis （CF）is a multisystem disorder caused by mutation in the gene for cystic fibrosis transmembrane conductance regulator. Early diagnosis and early treatment are the key to prevent and control CF. With the development of molecular genetics, the detection rate of CF is greatly improved,even during the neonatal period, CF can be diagnosed. The newly developed dings and comprehensive therapies have greatly prolonged the survival time of the patients. With the new understanding of the disease,the early diagnosis and treatment of CF are possible. Now, the diagnostic methods and treatment progress of CF are reviewed.

关 键 词：囊性纤维化 基因诊断 囊性纤维化跨膜转导调节蛋白 汗液试验 

分 类 号：R725.9[医药卫生—儿科]