Abstract
Cystic fibrosis is an autosomal recessively inherited, genetic disease that affects multiple organs. It is caused by mutations in the CFTR (cystic fibrosis trans-membrane regulator) gene.
So far, more than 2,000 variants of this gene have been discovered. The current prevalence of cystic fibrosis in the Czech Republic based on the results of neonatal screening until the end of 2018 is 1: 5,827.
Manifestations of cystic fibrosis are treatable, but the disease is not.