医学
囊性纤维化跨膜传导调节器
新生儿筛查
囊性纤维化
调节器
伊瓦卡夫托
内科学
重症监护医学
疾病
儿科
生物
基因
遗传学
标识
DOI:10.3760/cma.j.issn.2095-428x.2018.14.018
摘要
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 drugs 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.
Key words:
Cystic fibrosis; Genetic diagnosis; Cystic fibrosis transmembrane conductance regulator; Sweat test
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