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Review
. 2020 May;109(5):893-899.
doi: 10.1111/apa.15155. Epub 2020 Jan 22.

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

Kris De Boeck  1
Affiliations
Review

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

Kris De Boeck. Acta Paediatr. 2020 May.

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.

Keywords: cystic fibrosis; diagnosis; early screening; genetic mutations; survival rates.

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References

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