| Journal: | Genetics and molecular biology |
| Database: | PERIÓDICA |
| System number: | 000459210 |
| ISSN: | 1415-4757 |
| Authors: | Lima, Eliandra da Silveira1 Pezzin, Luíse Sgarabotto1 Fensterseifer, Ana Carolina2 Pinto, Leonardo Araújo2 |
| Institutions: | 1Pontificia Universidade Catolica do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul. Brasil 2Pontificia Universidade Catolica do Rio Grande do Sul, Escola de Medicina, Porto Alegre, Rio Grande do Sul. Brasil |
| Year: | 2022 |
| Volumen: | 45 |
| Number: | 1 |
| Country: | Brasil |
| Language: | Inglés |
| Document type: | Nota breve o noticia |
| Approach: | Descriptivo |
| English abstract | This is a descriptive cross-sectional study that aims to determine the distribution of the CFTR causing variant in a group of patients at a cystic fibrosis (CF) center in southern Brazil, as well as to describe causing variants that are treatable with mutation-specific drugs. Ninety-two patients from a CF reference center were assessed in this research, all of them with a clinical diagnosis of CF and both alleles identified with pathogenic variants. The most prevalent causing variants were F508del, R1162X, G542X, and N1303K. As for patients with a mutation-specific drug indication, 69.6 % were candidates for the use of Elexacaftor/Tezacaftor/Ivacaftor (Trikafta®), 44.6 % for the use of Tezacaftor/Ivacaftor (Symdeko®), and 35.9 % for the use of Lumacaftor/Ivacaftor (Orkambi®). For the use of Ivacaftor (Kalydeco®), only two patients (2.2 %) were candidates following the Brazilian agency approval. According to the FDA, 10 patients would be candidates for Ivacaftor (10.9 %). Causing variants of classes I and II, which are related to a major severity of the illness, were identified in 135 of 184 alleles (73.3 %). In this study, more than 2/3 of the patients were candidates for the use of CFTR modulators therapy |
| Disciplines: | Biología, Medicina |
| Keyword: | Genética, Diagnóstico, Terapéutica y rehabilitación, CFTR, Fibrosis quística, Brasil |
| Keyword: | Genetics, Diagnosis, Therapeutics and rehabilitation, Cystic fibrosis, CFTR, Brazil |
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