Cystic Fibrosis - a very common genetic disease among the population - a general review
DOI:
https://doi.org/10.12775/JEHS.2023.40.01.004Keywords
cystic fibrosis, cf, cftr, cf diagnosis, cftr geneAbstract
Cystic fibrosis is the most common genetic disease inherited in an autosomal recessive manner occurring among populations of Caucasian descent. It is an incurable, multi-composition monogenic disease caused by mutations in the gene encoding the CFTR protein, which is a membrane conduction regulator. Mutations of the CFTR gene can cause symptoms from many organs and systems as a result of extracellular secretion disorders, but the main symptoms of this disease are related to the respiratory system and digestive system. Although a lot of changes have occurred in regards to treating the disease and making the lives of sick patients easier and longer, there is still a long way to go. New therapy methods bring a lot hope and get us closer to reaching the ultimate goal of successfully treating all patients with CF. In this review, we summarize the information available about CF for the present moment, diagnostic methods, current methods of treatment and discuss possible future outcomes of therapy.
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Copyright (c) 2023 Julia Rutkowska, Klaudia Skorek, Rafał Babiak, Karolina Bajak, Paulina Czuchryta, Anastazja Domańska, Agnieszka Gawęda, Agata Grabek, Żaneta Rzęsa-Tokarczyk, Agnieszka Urbańczyk
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