{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T16:11:55Z","timestamp":1786119115633,"version":"build-2736575974"},"reference-count":39,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","funder":[{"name":"none","award":["none"],"award-info":[{"award-number":["none"]}]}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,7]]},"abstract":"\n Objective<\/jats:title>\n \n To investigate the association between\n CFTR<\/jats:italic>\n genotypes and clinical and nutritional outcomes in children and adolescents with cystic fibrosis (CF) receiving care within the public health system of Esp\u00edrito Santo, Brazil.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n This cross-sectional study retrospectively analyzed clinical and genetic data from 110 individuals under 18 years with confirmed CF, followed at a state reference center between 2007 and 2024.\n CFTR<\/jats:italic>\n variants were classified by functional consequence and grouped by severity. Outcomes included pancreatic insufficiency, forced expiratory volume in 1 s (FEV1%), Shwachman\u2013Kulczycki score, nutritional status, and chronic airway colonization by\n Pseudomonas aeruginosa<\/jats:italic>\n . Associations were assessed using appropriate statistical tests.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n A high degree of\n CFTR<\/jats:italic>\n genotypic heterogeneity was observed, with predominance of the F508del variant (72.7%) alongside a substantial proportion of non-F508del and rare pathogenic variants. Individuals carrying two class I\u2013III variants had a higher frequency of pancreatic insufficiency (\n P<\/jats:italic>\n = 0.026). The presence of p.Phe508del was associated with worse pulmonary function (\n P<\/jats:italic>\n = 0.031) and bone demineralization (\n P<\/jats:italic>\n = 0.026). The Shwachman\u2013Kulczycki score correlated negatively with age and age at diagnosis and positively with BMI\n z<\/jats:italic>\n -score and FEV1%. No significant associations were found between genotype and chronic\n P. aeruginosa<\/jats:italic>\n colonization, liver disease, or overall disease severity.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n CFTR<\/jats:italic>\n genotypic heterogeneity was high, with minimal function variants associated with poorer clinical outcomes. The notable presence of rare variants underscores the need for regional studies to better characterize phenotypic variability and support precision medicine strategies in middle-income settings.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1097\/fpc.0000000000000601","type":"journal-article","created":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T05:00:07Z","timestamp":1777006807000},"page":"163-170","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["CFTR genotype\u2013phenotype associations and clinical outcomes in pediatric cystic fibrosis"],"prefix":"10.1097","volume":"36","author":[{"given":"Luana da Silva Baptista","family":"Arpini","sequence":"first","affiliation":[{"name":"State Health Department of Esp\u00edrito Santo, Nossa Senhora da Gl\u00f3ria Children\u2019s Hospital, Vit\u00f3ria, Esp\u00edrito Santo"},{"name":"Postgraduate Program in Public Health and Environment, National School of Public Health, Sergio Arouca National School of Public Health, Oswaldo Cruz Foundation, Rio de Janeiro"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernanda Mayrink Gon\u00e7alves","family":"Liberato","sequence":"additional","affiliation":[{"name":"Department of Integrated Health Education, Health Sciences Center, Federal University of Esp\u00edrito Santo, Vit\u00f3ria, Esp\u00edrito Santo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina da Silva","family":"Santos","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Public Health and Environment, National School of Public Health, Sergio Arouca National School of Public Health, Oswaldo Cruz Foundation, Rio de Janeiro"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gina Torres Rego","family":"Monteiro","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Public Health and Environment, National School of Public Health, Sergio Arouca National 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