Cystic fibrosis: a literature review

• Autor(a) principal: Araújo, Rafaella Cristiny Silva de
• Data de Publicação: 2022
• Outros Autores: Passos, Marco Aurélio Ninômia
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Revista JRG de Estudos Acadêmicos
• Texto Completo: http://revistajrg.com/index.php/jrg/article/view/428
• topic: Fibrose Cística; Genética; CFTR; Diagnóstico; Tratamento

Objective: to summarize the available scientific knowledge on the genetics of cystic fibrosis, its manifestations, diagnosis and treatments. Methodology: this is an integrative literature review, with a descriptive and exploratory approach, which sought to synthesize and group the results collected in significant research, in order to deepen the knowledge of materials already prepared by articles and scientific studies. Results: a framework was built addressing the themes with a greater survey, among which CFTR gene mutations, diagnosis and treatment were analyzed. Conclusion: more current studies on the disease are needed in the hope that new therapies will be created to combat the defective gene that causes cystic fibrosis. Keywords: cystic fibrosis; genetics; CFTR; diagnosis; treatment.