囊性纤维化
医学
囊性纤维化跨膜传导调节器
新生儿筛查
疾病
儿科
重症监护医学
生物信息学
内科学
生物
摘要
Abstract The autosomal recessive disease cystic fibrosis (CF) was once untreatable and deadly in childhood, but now most patients survive to adulthood. Many countries have instituted CF newborn screening because early diagnosis improves outcome. CF research has greatly intensified following the discovery of the CF transmembrane conductance regulator ( CFTR ) gene, which has more than 2000 different mutations. For patients with common mutations like F508del, CFTR modulators are life transforming and may even prevent major complications if started early in childhood. For some patients with rare CFTR mutations, a treatment path still needs to be developed. Conclusion: This review provides a general update on CF, including screening and current and future treatment.
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