RESUMEN
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.
RESUMEN
BACKGROUND: Asthma is a common chronic disease in childhood, resulting in high costs for health care systems and society. As of June 2011, the Brazilian Unified Health System (SUS) provides free asthma medications for the population. This study evaluated the impact of this program on asthma admissions in the population aged 1-19 years. In addition, a cost-benefit analysis compared data before and after the introduction of the program. METHODS: This descriptive study was based on information from SUS Information Technology Department (DATASUS). Admission rates and costs of patients aged 1-19 years with diagnosed asthma were compared before (2008-2010) and after (2012-2017) the provision of free inhaled corticosteroid. RESULTS: The asthma admission rate reduced by 28.4% when comparing the two periods (OR 0.71; 95% CI 0.64-0.79). Children aged 1-4 years had a 27.3% reduction in asthma admissions (OR 0.72; 95% CI 0.63-0.82), while those aged 15-19 years had a 39.65% decrease (OR 0.59; 95% CI 0.37-0.95). Asthma admission costs decreased when comparing the two periods (OR 0.68; 95% CI 0.62-0.74). After the introduction of the program, mean cost savings reached US $27,865,905.08 in children aged 1-4 years and US $21,350,660.63 in those aged 5-19 years. CONCLUSION: The economic burden of pediatric asthma on Brazil's public health care system is significant. From 2012 to 2015, free provision of inhaled corticosteroid was cost-effective in all age groups. In 2017, no cost-benefit effect was observed in this population, but asthma admission rate decreased.
