Complexidades clínico-laboratoriais e a perspectiva da medicina de precisão como inovação terapêutica na fibrose cística

Abstract

Cystic fibrosis is a genetic disease resulted by the CFTR complete or partially inactivation, usually due to mutations in the cftr gene. The incidence of the cftr gene mutations ranges according to ethnic groups and geographic location. The CF phenotype is partially defined by patient's genotype. Early diagnosis and genetic study are associated with many benefits in the patient’s clinical and prognostic aspects. The initial aim of this study was to analyze the clinical-laboratory complexities of CF patients attended in Goiânia. For this purpose, initially, 66 CF patients were analyzed based on the most frequent mutation F508del. After that, 51 patients were re-analyzed according to their respective mutation classes and absence of cftr mutation. We also analyzed quality of life in 24 CF patients and 12 parents and / or caregivers with the application of Cystic Fibrosis Questionnaire-Revised (CFQ-R). Another aim was to identify, based on the literature, innovations in treatment strategies targeted to our CF patients. Thus, the mutations found in patients treated in Goiânia were analyzed from the perspective of precision medicine. Our data show a review of literature with potential mutation specific drugs which target our patient’s genotype. We also investigated aerobic physical exercise and strength as a form of treatment for CF patients by a systematic literature review. Our results demonstrated that CF patients homozygous and heterozygotes F508del had a difference in the chloride values in the sweat test, and early diagnosis was associated with better clinical status. The CF patients analyzed with class IV / V mutations had a later diagnosis compared to patients with class I / II mutations. While wild type cftr patients had a lower chloride value in the sweat test compared to patients with class I / II mutations, and a better clinical picture compared to patients with mutations in the cftr gene. Approximately 22.2% of the CF patients attended in Goiânia that we analyzed are eligible for precision medicine treatments. According to the literature, aerobic and strength exercises have been shown to be beneficial for CF patients, provided that the type of exercise is prescribed in a personalized manner, regarding the modality and needs of the patient.