Browsing by Author "Uytun S."

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    Patients with cystic fibrosis who could not receive the CFTR modulator treatment: What did they lose in 1 year?
    (John Wiley and Sons Inc, 2023) Uytun S.; Cinel G.; Eryılmaz Polat S.; Özkan Tabakçı S.; Kiper N.; Yalçın E.; Ademhan Tural D.; Özsezen B.; Şen V.; Selimoğlu Şen H.; Ufuk Altıntaş D.; Çokuğraş H.; Kılınç A.A.; Başkan A.K.; Yazan H.; Çollak A.; Uzuner S.; Ünal G.; Yılmaz A.İ.; Çağlar H.T.; Damadoğlu E.; Irmak İ.; Demir E.; Kartal Öztürk G.; Bingöl A.; Başaran E.; Sapan N.; Canıtez Y.; Tana Aslan A.; Asfuroğlu P.; Harmancı K.; Köse M.; Hangül M.; Özdemir A.; Çobanoğlu N.; Özcan G.; Keskin Ö.; Yüksel H.; Özdoğan Ş.; Topal E.; Çaltepe G.; Can D.; Korkmaz Ekren P.; Kılıç M.; Emiralioğlu N.; Şişmanlar Eyüboğlu T.; Pekcan S.; Çakır E.; Özçelik U.; Doğru D.
    Background: Cystic fibrosis (CF) is an autosomal recessive disorder caused by CF transmembrane conductance regulator (CFTR) genetic variants. CFTR modulators improve pulmonary function and reduce respiratory infections in CF. This study investigated the clinical and laboratory follow-up parameters over 1 year in patients with CF who could not receive this treatment. Methods: This retrospective cohort study included 2018 and 2019 CF patient data from the CF registry of Turkey. Demographic and clinical characteristics of 294 patients were assessed, who had modulator treatment indications in 2018 but could not reach the treatment. Results: In 2019, patients younger than 18 years had significantly lower BMI z-scores than in 2018. During the 1-year follow-up, forced expiratory volumes (FEV1) and FEV1 z-scores a trend toward a decrease. In 2019, chronic Staphylococcus aureus colonization, inhaled antipseudomonal antibiotic use for more than 3 months, oral nutritional supplement requirements, and oxygen support need increased. Conclusions: Patients who had indications for modulator treatments but were unable to obtain them worsened even after a year of follow-up. This study emphasized the importance of using modulator treatments for patients with CF in our country, as well as in many countries worldwide. © 2023 Wiley Periodicals LLC.
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    Eligibility of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulator therapies: cohort of cystic fibrosis registry of Türkiye
    (Turkish National Pediatric Society, 2025) Erdal M.A.; Büyükşahin H.N.; Şen V.; Kılınç A.A.; Çokuğraş H.; Doğan G.; Yılmaz A.İ.; Ünal G.; Serbes M.; Altıntaş D.U.; Arık E.; Keskin Ö.; Özaslan M.M.; Karcıoğlu O.; Köse M.; Başaran A.E.; Çakır E.P.; Canıtez Y.; Özdemir A.; Harmancı K.; Uytun S.; Polat S.E.; Hangül M.; Yüksel H.; Özcan G.; Korkmaz P.; Kılıç M.; Aydın Z.G.G.; Çaltepe G.; Can D.; Doğru S.; Öztürk G.K.; Süleyman A.; Topal E.; Özsezen B.; Hızal M.; Demirdöğen E.; Ogun H.; Börekçi Ş.; Yazan H.; Şen H.S.; Demir A.D.; Çakır E.; Eyüboğlu T.Ş.; Emiralioğlu N.; Pekcan S.; Özçelik U.; Doğru D.
    Background. Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) variants are essential for determining eligibility for CFTR modulator drugs (CFTRms). In contrast to Europe and the USA, the treatment eligibility profile of cystic fibrosis (CF) patients in Türkiye is not known. In this study we aimed to determine the eligibility of CF patients in Türkiye for the CFTRms. Methods. The Cystic Fibrosis Registry of Türkiye (CFrT) data was used to determine the age of patients in the year 2021 and the genetic variants they were carrying. Age-and CFTR-variant appropriate modulator therapies were determined using the Vertex® algorithm. Results. Among a total of 1930 registered patients, CTFR gene analysis was performed on a total of 1841 (95.4%) patients. Mutations were detected in one allele in 10.7% (198 patients), and in both alleles in 79% (1455 patients) of patients. A total of 855 patients (51.7% for whom at least 1 mutation was detected) were eligible for the drugs. The most appropriate drug among genotyped patients was found to be elexacaftor/tezacaftor/ivacaftor for 486 patients (26.4%), followed by ivacaftor for 327 patients (17.7%) and lumacaftor/ivacaftor for 42 patients (2%). Conclusions. Only half of patients registered in CFrT were eligible for CFTRms, which is a significant difference from the CFTR variant profile seen in USA and Europe. However, access to treatment is hampered for some patients whose genes are not analysed. Further studies in CF populations, where rare mutations are relatively more common, will contribute to the field of CFTR modulator treatments for such rare mutations. © 2025 The Author(s).