Internal medicine

Pathology

Pediatrics

Disease

Bioinformatics

Biology

Gene

Intensive care medicine

Newborn screening

Cystic fibrosis

Cystic fibrosis transmembrane conductance regulator

Mutation

Genetics

Medicine

Acta Paediatrica

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.

Cystic fibrosis in the year 2020: A disease with a new face