Browsing by Author "Başaran A.E."

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    Patients eligible for modulator drugs: Data from cystic fibrosis registry of Turkey
    (John Wiley and Sons Inc., 2020) Çobanoğlu N.; Özçelik U.; Çakır E.; Şişmanlar Eyüboğlu T.; Pekcan S.; Cinel G.; Yalçın E.; Kiper N.; Emiralioğlu N.; Şen V.; Şen H.S.; Ercan Ö.; Çokuğraş H.; Kılınç A.A.; Al Shadfan L.M.; Yazan H.; Altıntaş D.U.; Karagöz D.; Demir E.; Kartal Öztürk G.; Bingöl A.; Başaran A.E.; Sapan N.; Çekiç Ş.; Çelebioğlu E.; Aslan A.T.; Gürsoy T.R.; Tuğcu G.; Özdemir A.; Harmancı K.; Yıldırım G.K.; Köse M.; Hangül M.; Tamay Z.; Süleyman A.; Yüksel H.; Yılmaz Ö.; Özcan G.; Topal E.; Can D.; Korkmaz Ekren P.; Çaltepe G.; Kılıç M.; Özdoğan Ş.; Doğru D.
    Background: A better understanding of cystic fibrosis transmembrane conductance regulator biology has led to the development of modulator drugs such as ivacaftor, lumacaftor-ivacaftor, tezacaftor-ivacaftor, and elexacaftor-tezacaftor-ivacaftor. This cross-sectional study evaluated cystic fibrosis (CF) patients eligible for modulator drugs. Methods: Data for age and genetic mutations from the Cystic Fibrosis Registry of Turkey collected in 2018 were used to find out the number of patients who are eligible for modulator therapy. Results: Of registered 1488 CF patients, genetic analysis was done for 1351. The numbers and percentages of patients and names of the drugs, that the patients are eligible for, are as follows: 122 (9.03%) for ivacaftor, 156 (11.54%) for lumacaftor-ivacaftor, 163 (11.23%) for tezacaftor-ivacaftor, and 57 (4.21%) for elexacaftor-tezacaftor-ivacaftor. Among 1351 genotyped patients total of 313 (23.16%) patients are eligible for currently licensed modulator therapies (55 patients were shared by ivacaftor and tezacaftor-ivacaftor, 108 patients were shared by lumacaftor-ivacaftor and tezacaftor-ivacaftor, and 22 patients were shared by tezacaftor-ivacaftor and elexacaftor-tezacaftor-ivacaftor groups). Conclusions: The present study shows that approximately one-fourth of the registered CF patients in Turkey are eligible for modulator drugs. As, frequent mutations that CF patients have in Turkey are different from North American and European CF patients, developing modulator drugs effective for those mutations is necessary. Furthermore, as modulator drugs are very expensive currently, financial support of the government in developing countries like Turkey is noteworthy. © 2020 Wiley Periodicals LLC
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    Clinical features and accompanying findings of Pseudo-Bartter Syndrome in cystic fibrosis
    (John Wiley and Sons Inc., 2020) Sismanlar Eyuboglu T.; Dogru D.; Çakır E.; Cobanoglu N.; Pekcan S.; Cinel G.; Yalçın E.; Kiper N.; Sen V.; Selimoglu Sen H.; Ercan O.; Keskin O.; Bilgic Eltan S.; Alshadfan L.; Yazan H.; Altıntas D.U.; Sasihuseyinoglu A.S.; Sapan N.; Cekic S.; Cokugraş H.; Kılınc A.A.; Ramaslı Gursoy T.; Aslan A.T.; Bingol A.; Başaran A.E.; Ozdemir A.; Kose M.; Hangul M.; Emiralioglu N.; Tugcu G.; Yuksel H.; Yılmaz O.; Orhan F.; Gayretli Aydın Z.G.; Topal E.; Tamay Z.; Suleyman A.; Can D.; Bal C.M.; Caltepe G.; Ozcelik U.
    Background: Pseudo-Bartter syndrome (PBS) is a rare complication of cystic fibrosis (CF) and there are limited data in the literature about it. We aimed to compare clinical features and accompanying findings of patients with PBS in a large patient population. Methods: The data were collected from the Cystic Fibrosis Registry of Turkey where 1170 CF patients were recorded in 2017. Clinical features, diagnostic test results, colonization status, complications, and genetic test results were compared in patients with and without PBS. Results: Totally 1170 patients were recorded into the registry in 2017 and 120 (10%) of them had PBS. The mean age of diagnosis and current age of patients were significantly younger and newborn screening positivity was lower in patients with PBS (P <.001). There were no differences between the groups in terms of colonization status, mean z-scores of weight, height, BMI, and mean FEV1 percentage. Types of genetic mutations did not differ between the two groups. Accompanying complications were more frequent in patients without PBS. Conclusion: PBS was detected as the most common complication in the registry. It could be due to warm weather conditions of our country. It is usually seen in younger ages regardless of mutation phenotype and it could be a clue for early diagnosis of CF. © 2020 Wiley Periodicals, Inc.
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    Cystic fibrosis in Turkey: First data from the national registry
    (John Wiley and Sons Inc., 2020) Dogru D.; Çakır E.; Şişmanlar T.; Çobanoğlu N.; Pekcan S.; Cinel G.; Yalçın E.; Kiper N.; Şen V.; S. Şen H.; Ercan Ö.; Keskin Ö.; B. Eltan S.; Al Shadfan L.M.; Yazan H.; Altıntaş D.U.; Şaşihüseyinoğlu Ş.; Sapan N.; Çekiç Ş.; Çokuğraş H.; A. Kılınç A.; R. Gürsoy T.; Aslan A.T.; Bingöl A.; Başaran A.E.; Özdemir A.; Köse M.; Hangül M.; Emiralioğlu N.; Tuğcu G.; Yüksel H.; Yılmaz Ö.; Orhan F.; Gayretli Aydın Z.G.; Topal E.; Tamay Z.; Süleyman A.; Can D.; Bal C.M.; Çaltepe G.; Özçelik U.
    Background: Cystic fibrosis (CF) care has been implemented in Turkey for a long time; however, there had been no patient registry. For this purpose, the Turkish National CF Registry was established. We present the first results of registry using data collected in 2017. Methods: The data were collected using a data-entry software system, which was accessed from the internet. Demographic and annually recorded data consisted of 15 and 79 variables, respectively. Results: There were 1170 patients registered from 23 centers; the estimated coverage rate was 30%. The median age at diagnosis was 1.7 years (median current age: 7.3 years); 51 (4.6%) patients were aged over 18 years. Among 293 patients who were under 3 years of age, 240 patients (81.9%) were diagnosed through newborn screening. Meconium ileus was detected in 65 (5.5%) patients. Genotyping was performed in 978 (87.4%) patients and 246 (25.2%) patients' mutations were unidentified. The most common mutation was deltaF508 with an allelic frequency of 28%, followed by N1303K (4.9%). The median FEV1% predicted was 86. Chronic colonization with Pseudomonas aeruginosa was seen in 245 patients. The most common complication was pseudo-Bartter syndrome in 120 patients. The median age of death was 13.5 years in a total of 15 patients. Conclusions: Low coverage rate, lack of genotyping, unidentified mutations, and missing data of lung functions are some of our greatest challenges. Including data of all centers and reducing missing data will provide more accurate data and help to improve the CF care in Turkey in the future. © 2019 Wiley Periodicals, Inc.
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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).
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    A retrospective cohort study of children diagnosed with Cystic Fibrosis after implementation of a newborn screening program in Turkey
    (W.B. Saunders Ltd, 2025) Kekeç H.; Eyüboğlu T.Ş.; Aslan A.T.; Hocoğlu Z.İ.; Yalçın E.; Sunman B.; Yavuz B.Ç.; Şen V.; Savaş S.; Kılınç A.A.; Başkan A.K.; Yazan H.; Ünal G.; Canıtez Y.; Sapan N.; Gülen F.; Öztürk G.K.; Keskin Ö.; Arık E.; Köse M.; Ersoy A.; Altıntaş D.U.; Serbes M.; Başaran A.E.; Bingöl A.; Özdemir A.; Barlık M.; Tuğcu G.D.; Bilgiç I.; Anıl H.; Özsezen B.; Tekin M.N.; Yüksel H.; Çaltepe G.; Hangül M.; Gayretli Aydın Z.G.; Kılıç M.; Hızal M.; İkizoğlu N.B.; Özcan G.; Emiralioğlu N.; Cinel G.; Pekcan S.; Çakır E.; Özçelik U.; Doğru D.
    Introduction: Newborn screening (NBS) for cystic fibrosis (CF) facilitates early diagnosis and has been shown to significantly improve long-term clinical outcomes. In this study, we aimed to evaluate the 7-year results of the immunoreactive trypsinogen (IRT)/IRT NBS of Turkey. Methods: The study included all CF patients who were born after NBS implementation, and who were enrolled in the CF Registry of Turkey (CFRT) in 2022. Patients were divided into three groups according to NBS results: Group 1 with positive NBS, Group 2 with negative NBS, and Group 3 with no screening or unknown screening results. All clinical and demographic data were compared between the three groups. Results: A total of 853 patients were included in the study, 668 (78.3%) patients were in Group 1, 90 (10.5%) in Group 2, and 95 (11.2%) in Group 3. The age at diagnosis was 0.17 (0.08-0.33) years in Group 1, 0.50 (0.25-1.0) in Group 2, and 0.33 (0.17-0.75) in Group 3 (p<0.001). The first and second sweat test results and frequency of pancreatic insufficiency were lowest in Group 2 (p<0.05). Median FEV1 (%) was 88 (77-103) in Group 1, 90 (71.5-104) in Group 2, 89.5 (81.75-97.5) in Group 3 (p>0.05). 49% of the patients had a severe genotype and it was detected most frequently in Group 1 (p=0.021). Conclusions: Patients with pancreatic sufficiency may be missed by IRT/IRT NBS and lower and negative sweat test results may contribute to delays in CF diagnosis. Approximately 22% of patients are not diagnosed through this screening method. © 2025 Elsevier Ltd