Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil.
Katiana Murieli da RosaEliandra da Silveira de LimaCamila Correia MachadoThaiane RispoliVictória d'Azevedo SilveiraRenata OngarattoTalitha ComaruLeonardo Araujo PintoPublished in: Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia (2019)
The mutations of CFTR identified more frequently were F508del and G542X. These are type II and I mutations, respectively. Along with type III, they present a more severe cystic fibrosis phenotype. More than half of the sample (52.38%) presented homozygous mutation for F508del, that is, patients who could be treated with Lumacaftor/Ivacaftor. Approximately 7% of the patients (7.14%) presented type III and IV mutations, therefore becoming candidates for the treatment with Ivacaftor.