P029 Cystic fibrosis precision treatment – an unequal access in Brazil
نویسندگان
چکیده
Introduction: There have been significant advancements in the treatment of cystic fibrosis (CF), particularly for people who are eligible CFTR modulators drugs. However, there is an unequal access to these drugs worldwide. Currently, Brazil, only Ivacaftor approved public health system. The state Bahia, located Northeast presents a highly admixture population. In spite this F508del variant most frequently identified Objective: To determine frequency gene variants CF patients from referral center State Bahia and compare numbers using medications. Methods: It was cross-sectional study. Clinical data were registered, peripheral blood samples collected molecular analysis by standard methods. A cheek swab obtained sequencing Illumina HiSeq platform if two pathological not identified. Results: 66 studied, 33 (50%) males 64 non-whites, median age 132.9 months. 30 different identified, including new one. observed alleles frequencies were: (47.7%); G542X (8.3%);3120+1GàA (7.6%); R334W (4.5%) R1162X (3.0%). Considering their genotype, 51 44 any according Food Drugs Administration Brazilian Regulatory Agency (ANVISA), respectively. No ANVISA label. Nevertheless, so far, children medications, both them through court process. Conclusion: Despite great degree admixture, population analysed shows high F508 del precision medicine. Yet, limited medications which prevents getting benefits.
منابع مشابه
[Cystic fibrosis in Brazil: the pediatrician's turn].
1. Medeiros LCS, Speridião PGL, Sdepanian VL, Fagundes-Neto U, Morais MB. Ingestão de nutrientes e estado nutricional de crianças em dieta isenta de leite de vaca e derivados. J Pediatr (Rio J). 2004;80:363-70. 2. Henriksen C, Eggesbo M, Halvorsen R, Botten G. Nutrient intake among two-year-old children on cows milk-restricted diets. Acta Paediatr. 2000;89:272-8. 3. Arvola T, Holmberg-Marttila...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2023
ISSN: ['1569-1993', '1873-5010']
DOI: https://doi.org/10.1016/s1569-1993(23)00405-8