Diagnostics of cystic fibrosis and other CFTR-related diseases - analysis of the p.Phe508del mutation of the CFTR gene and over 80 other mutations in exon 11

Mutation of the CFTR gene Phe508del is the most common mutation in patients with cystic fibrosis.

It is present in about two-thirds of patients. Detection of pathogenic mutations in two alleles definitively confirms the diagnosis of cystic fibrosis in a patient patient.

If during the diagnostic procedure it was possible to identify a mutation in only one allele or no mutation was identified the result of the molecular test does not confirm, but also does not exclude the the diagnosis of cystic fibrosis.
The CFTR WGen is responsible for the production of the CFTR protein, which is responsible for the proper formation of the membrane channel for ion chloride, so its mutation results in impaired transport of chloride ions chloride ions.

Cystic fibrosis is one of the rare diseases of chronic and systemic with diverse clinical expression. In the classic, full-blown form of the disease, the most common symptoms are inflammation of the bronchiolitis and pneumonia, exocrine pancreatic insufficiency and fertility disorders.
The patient's body produces excessively viscous mucus, which causes disorders in all organs that have mucus glands (mainly in the respiratory, digestive and reproductive systems). The glands sweat glands secrete sweat with an increased concentration of chlorine and sodium.