Clinica Pediatrica, IRCCS “Burlo Garofolo”, Trieste
Key words: Cystic fibrosis, CFTR, Screening
The identification of CF gene prompted several advances in the understanding of the disease, as well as practical improvements in the diagnosis. New perspectives are also open with respect to screening programs and therapeutic implications. At present, due to the high number of mutations in the CF gene, screening programs based on genetic screening are not recommended, and genetic testing is indicated only for cases where CF is suspected on clinical grounds and sweat test is negative or border line. Relationship between genotype and fenotype have also been partially clarified: a strict association does exist for pancreatic function, but not for lung disease. Therapeutic perspectives are based on gene therapy or pharmacological activation of CFTR; in this area there are encouraging results but clinical application is still not possible.
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