{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:47:00Z","timestamp":1753894020674,"version":"3.41.2"},"reference-count":22,"publisher":"Pensoft Publishers","issue":"3","license":[{"start":{"date-parts":[[2025,5,16]],"date-time":"2025-05-16T00:00:00Z","timestamp":1747353600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["FM"],"abstract":"<jats:p><jats:bold>Introduction<\/jats:bold>: Cystic fibrosis is a multi-organ genetic disorder with over 1,300 known mutations in the CFTR gene. The diversity of genetic variations leads to a wide range of clinical manifestations and disease severity.<\/jats:p>\n          <jats:p><jats:bold>Aim<\/jats:bold>: A retrospective analysis of genetic variants, their associated clinical manifestations at diagnosis, disease progression, and mortality in cystic fibrosis patients in the Pleven region over a 28-year period.<\/jats:p>\n          <jats:p><jats:bold>Materials and methods<\/jats:bold>: We analyzed 77 patients aged 1 to 32 years with cystic fibrosis, diagnosed and treated at the Pediatric Clinic in Pleven between 1989 and 2017. Diagnosis was based on clinical symptoms, sweat chloride testing, and DNA analysis. Statistical analyses were performed using descriptive statistics.<\/jats:p>\n          <jats:p><jats:bold>Results<\/jats:bold>: DNA analysis revealed that 71% of patients were heterozygous for delF508, 20% were homozygous for delF508, and 9% had other mutations. 72.6% of the children were diagnosed before the age of 1 based on bronchopulmonary symptoms and exocrine insufficiency; 27.4% were diagnosed later, despite early respiratory and gastrointestinal symptoms.<\/jats:p>\n          <jats:p>Follow-up showed mixed pulmonary and gastrointestinal manifestations in 46.5% of patients, 25.9% had only pulmonary symptoms, 15.4% had malabsorption syndrome with steatorrhea, 9.5% had meconium ileus, 8.2% had an edematous-anemic form, and 4% had hepatobiliary involvement. 44.1% of patients died within the first year of life, 7.8% between 1-4 years, and 3.9% between 4-18 years.<\/jats:p>\n          <jats:p>The analysis shows that the most common mutation in the studied cohort is heterozygosity for delF508, with bronchopulmonary symptoms being the predominant clinical manifestation at diagnosis and during follow-up. Mortality was highest in patients under 1 year of age.<\/jats:p>","DOI":"10.3897\/folmed.67.e150928","type":"journal-article","created":{"date-parts":[[2025,5,16]],"date-time":"2025-05-16T07:31:33Z","timestamp":1747380693000},"source":"Crossref","is-referenced-by-count":0,"title":["Long-term follow-up of cystic fibrosis patients in the Pleven region over a 28-year period"],"prefix":"10.3897","volume":"67","author":[{"given":"Nadia I.","family":"Kolarova","sequence":"first","affiliation":[{"name":"Medical University of Pleven, Pleven, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4410-6515","authenticated-orcid":true,"given":"Evgeni V.","family":"Mekov","sequence":"additional","affiliation":[{"name":"Medical University of Sofia, Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2702-0311","authenticated-orcid":true,"given":"Nikolay A.","family":"Yanev","sequence":"additional","affiliation":[{"name":"Medical University of Sofia, Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vania N.","family":"Nedkova","sequence":"additional","affiliation":[{"name":"Medical University of Pleven, Pleven, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2258","published-online":{"date-parts":[[2025,5,16]]},"reference":[{"key":"150928_B1","unstructured":"1. 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