{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,26]],"date-time":"2025-08-26T04:40:17Z","timestamp":1756183217704,"version":"3.44.0"},"reference-count":15,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,8,26]],"date-time":"2025-08-26T00:00:00Z","timestamp":1756166400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"Background<\/jats:title>Cystic fibrosis is a genetic disease affecting mainly the respiratory and digestive systems through CFTR gene mutations. The condition is characterized by the production of thick mucus, which can lead to severe respiratory complications and pancreatic insufficiency.<\/jats:p>We report a rare homozygous c.1375_1383del CFTR variant associated with early, clinically significant presentation. This highlights the importance of early recognition and genotype-specific management to maximize patient outcomes and improve quality of life.<\/jats:p><\/jats:sec>Case Report<\/jats:title>We present a 10-month-old female infant born to consanguineous parents with a significant medical history of chronic cough, cyanosis, failure to thrive, poor feeding, and irritability who ultimately required multiple hospitalizations for severe infections requiring mechanical ventilation and intravenous antibiotics. Initial evaluations included thorough clinical assessments and several diagnostic tests, including whole-exome sequencing, which revealed a homozygous c.1375_1383del variant in the CFTR gene. Aggressive therapy, including antipseudomonal antibiotics, was needed to clear the infection, in addition to administration of dornase alpha, 7% hypertonic saline, and pancreatic enzyme replacement therapy. These interventions contributed significantly to the gradual clinical improvement of the patient. At 18-month follow-up, the patient exhibited improved weight gain and a reduction in the frequency of exacerbations.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>The c.1375_1383del variant is a rare CFTR variant and is associated with early, clinically significant manifestations of cystic fibrosis in infants, which necessitates early recognition and aggressive management to improve patient outcomes. This case underscores the need for awareness of rare CFTR variants and their potential clinical implications, which can lead to tailored treatment approaches, ultimately enhancing the quality of life for affected individuals.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2025.1643050","type":"journal-article","created":{"date-parts":[[2025,8,26]],"date-time":"2025-08-26T04:13:38Z","timestamp":1756181618000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["A severe early presentation of cystic fibrosis in an infant with a homozygous c.1375_1383del CFTR variant- a case report"],"prefix":"10.3389","volume":"13","author":[{"given":"Abdullah","family":"Yousef","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,8,26]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"402","DOI":"10.3390\/genes16040402","article-title":"Cutting-edge advances in cystic fibrosis: from gene therapy to personalized medicine and holistic management","volume":"16","author":"Parisi","year":"2025","journal-title":"Genes"},{"key":"B2","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1016\/j.ijpam.2015.05.006","article-title":"The road for survival improvement of cystic fibrosis patients in Arab countries","volume":"2","author":"Banjar","year":"2015","journal-title":"Int J Pediatr Adolesc Med"},{"key":"B3","doi-asserted-by":"publisher","first-page":"263","DOI":"10.3390\/arm92040026","article-title":"Cystic fibrosis: understanding cystic fibrosis transmembrane regulator mutation classification and modulator therapies","volume":"92","author":"Anwar","year":"2024","journal-title":"Adv Respir Med"},{"key":"B4","doi-asserted-by":"publisher","first-page":"15","DOI":"10.5144\/0256-4947.2020.15","article-title":"Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia","volume":"40","author":"Banjar","year":"2020","journal-title":"Ann Saudi Med"},{"key":"B5","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/j.ijpam.2019.12.002","article-title":"Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia","volume":"8","author":"Banjar","year":"2021","journal-title":"Int J Pediatr Adolesc Med"},{"key":"B6","doi-asserted-by":"publisher","first-page":"893","DOI":"10.1111\/apa.15155","article-title":"Cystic fibrosis in the year 2020: a disease with a new face","volume":"109","author":"De Boeck","year":"2020","journal-title":"Acta Paediatr"},{"key":"B7","article-title":"The Clinical and Functional Translation of CFTR (CFTR2)","year":"2024"},{"key":"B8","doi-asserted-by":"publisher","first-page":"1160","DOI":"10.1038\/ng.2745","article-title":"Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene","volume":"45","author":"Sosnay","year":"2013","journal-title":"Nat Genet"},{"key":"B9","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1038\/sj.ejhg.5201590","article-title":"Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms","volume":"14","author":"F\u00e9rec","year":"2006","journal-title":"Eur J Hum Genet"},{"key":"B10","doi-asserted-by":"publisher","first-page":"18","DOI":"10.3390\/ijns6010018","article-title":"Newborn screening for CF across the globe","volume":"6","author":"Scotet","year":"2020","journal-title":"Int J Neonatal Screen"},{"key":"B11","doi-asserted-by":"publisher","first-page":"1701","DOI":"10.1016\/j.celrep.2019.01.068","article-title":"Rectal organoids enable personalized treatment of cystic fibrosis","volume":"26","author":"Berkers","year":"2019","journal-title":"Cell Rep"},{"key":"B12","doi-asserted-by":"publisher","first-page":"L529","DOI":"10.1152\/ajplung.00465.2017","article-title":"Personalized medicine in CF: from modulator development to therapy for cystic fibrosis patients with rare CFTR mutations","volume":"314","author":"Harutyunyan","year":"2018","journal-title":"Am J Physiol Lung Cell Mol Physiol"},{"key":"B13","doi-asserted-by":"publisher","first-page":"148190","DOI":"10.1016\/j.gene.2024.148190","article-title":"Genetic analysis and functional study of novel CFTR variants in Chinese children with cystic fibrosis","volume":"907","author":"Sun","year":"2024","journal-title":"Gene"},{"key":"B14","article-title":"Population Characteristics of the Spectrum and Frequencies of CFTR Gene Mutations in Patients with Cystic Fibrosis from the Republic of Bashkortostan (Russia). 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