Browsing by Author "Aslan A.T."
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Item 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 LLCItem 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.Item 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.Item The success of the Cystic Fibrosis Registry of Turkey for improvement of patient care(John Wiley and Sons Inc, 2022) Asfuroglu P.; Sismanlar Eyuboglu T.; Aslan A.T.; Gursoy T.R.; Emiralioglu N.; Yalcin E.; Kiper N.; Sen V.; Sen H.S.; Altintas D.U.; Ozcan D.; Kilinc A.A.; Cokugras H.; Baskan A.K.; Yazan H.; Erenberk U.; Dogan G.; Unal G.; Yilmaz A.I.; Keskin O.; Arik E.; Kucukosmanoglu E.; Irmak I.; Damadoglu E.; Ozturk G.K.; Gulen F.; Basaran A.E.; Bingol A.; Cekic S.; Sapan N.; Kilic G.; Harmanci K.; Kose M.; Ozdemir A.; Tugcu G.D.; Polat S.E.; Hangul M.; Ozcan G.; Aydin Z.G.G.; Yuksel H.; Topal E.; Ozdogan S.; Caltepe G.; Suleyman A.; Can D.; Ekren P.K.; Bal C.M.; Kilic M.; Cinel G.; Cobanoglu N.; Pekcan S.; Cakir E.; Ozcelik U.; Dogru D.Background: Cystic fibrosis (CF) registries play an essential role in improving disease outcomes of people with CF. This study aimed to evaluate the association of newly established CF registry system in Turkey on follow-up, clinical, growth, treatment, and complications of people with this disease. Methods: Age at diagnosis, current age, sex, z-scores of weight, height and body mass index (BMI), neonatal screening results, pulmonary function tests, history of meconium ileus, medications, presence of microorganisms, and follow-up were evaluated and compared to data of people with CF represented in both 2017 and 2019 registry data. Results: There were 1170 people with CF in 2017 and 1637 in 2019 CF registry. Eight hundred and fourteen people were registered in both 2017 and 2019 of whom z-scores of heights and BMI were significantly higher in 2019 (p = 0.002, p =0.039, respectively). Inhaled hypertonic saline, bronchodilator, and azithromycin usages were significantly higher in 2019 (p =0.001, p = 0.001, p = 0.003, respectively). The percent predicted of forced expiratory volume in 1 sec and forced vital capacity were similar in 2017 and 2019 (88% and 89.5%, p = 0.248 and 84.5% and 87%, p =0.332, respectively). Liver diseases and osteoporosis were significantly higher, and pseudo-Bartter syndrome (PBS) was significantly lower in 2019 (p = 0.011, p = 0.001, p = 0.001, respectively). Conclusions: The z-scores of height and BMI were higher, the use of medications that protect and improve lung functions was higher and incidence of PBS was lower in 2019. It was predicted that registry system increased the care of people with CF regarding their follow-up. The widespread use of national CF registry system across the country may be beneficial for the follow-up of people with CF. © 2022 Wiley Periodicals LLC.Item Clinical findings of patients with cystic fibrosis according to newborn screening results(John Wiley and Sons Inc, 2022) Ramasli Gursoy T.; Aslan A.T.; Asfuroglu P.; Sismanlar Eyuboglu T.; Cakir E.; Cobanoglu N.; Pekcan S.; Cinel G.; Dogru D.; Ozcelik U.; Yalcin E.; Sen V.; Ercan O.; Kilinc A.A.; Yazan H.; Altintas D.U.; Kartal Ozturk G.; Bingol A.; Sapan N.; Celebioglu E.; Tugcu G.D.; Ozdemir A.; Harmanci K.; Kose M.; Emiralioglu N.; Tamay Z.; Yuksel H.; Ozcan G.; Topal E.; Can D.; Korkmaz Ekren P.; Caltepe G.; Kilic M.; Ozdogan S.Background: Cystic fibrosis (CF) is a lethal recessive genetic disease caused by loss of function associated with mutations in the CF trans-membrane conductance regulator. It is highly prevalent (approximately 1 in 3,500) in Caucasians. The aim of this study was to compare demographic and clinical features, diagnostic tests, treatments, and complications of patients with CF whose newborn screening (NBS) with twice-repeated immune reactive trypsinogen testing was positive, normal, and not performed. Methods: In this study, 359 of all 1,488 CF patients recorded in the CF Registry of Turkey in 2018, who had been born through the process of NBS, were evaluated. Demographic and clinical features were compared in patients diagnosed with positive NBS (Group 1), normal (Group 2), or without NBS (Group 3). Results: In Group 1, there were 299 patients, in Group 2, there were 40 patients, and in Group 3, there were 20 patients. Among all patients, the median age at diagnosis was 0.17 years. The median age at diagnosis was higher in Groups 2 and 3 than in Group 1 (P = 0.001). Fecal elastase results were higher in Group 2 (P = 0.033). The weight z-score was lower and chronic Staphylococcus aureus infection was more common in Group 3 (P = 0.017, P = 0.004, respectively). Conclusions: Frequency of growth retardation and chronic S. aureus infection can be reduced with an early diagnosis using NBS. In the presence of clinical suspicion in patients with normal NBS, further analyses such as genetic testing should be performed, especially to prevent missing patients with severe mutations. © 2021 Japan Pediatric Society.Item Clinical characteristics of patients requiring lung transplantation referral in national cystic fibrosis registry data(Turkish National Pediatric Society, 2023) Onay Z.R.; Eyüboğlu T.Ş.; Aslan A.T.; Gürsoy T.R.; Yalçın E.; Kiper N.; Emiralioğlu N.; Şen H.S.; Şen V.; Ünal G.; Yılmaz A.İ.; Kılınç A.A.; Çokuğraş H.; Başkan A.K.; Yazan H.; Çollak A.; Uzuner S.; Şasihüseyinoğlu A.Ş.; Özcan D.; Altıntaş D.U.; Öztürk G.K.; Demir E.; Bingöl A.; Başaran E.; Çekiç Ş.; Sapan N.; Irmak İ.; Damadoğlu E.; Tuğcu G.D.; Polat S.E.; Özdemir A.; Harmancı K.; Kılıç G.; Hangül M.; Köse M.; Tamay Z.; Yüksel H.; Özcan G.; Topal E.; Can D.; Korkmaz P.; Çaltepe G.; Kılıç M.; Özdoğan Ş.; Çakır E.; Çobanoğlu N.; Pekcan S.; Cinel G.; Özçelik U.; Doğru D.Background. We aimed to determine the number of cystic fibrosis (CF) patients recorded in the Cystic Fibrosis Registry of Türkiye (CFRT) who were in need of lung transplantation (LT) referral and examine clinical differences between patients who were LT candidates due to rapid forced expiratory volume in one second (FEV₁) decline and LT candidates without rapid FEV₁ decline in the last year to identify a preventable cause in patients with such rapid FEV₁ decline. Methods. All CF patients recorded in the CFRT in 2018 were evaluated in terms of LT. Patients were divided into those with FEV₁ below 50% and in need of LT due to a decrease of 20% or more in the previous year (Group 1) and those who did not have FEV₁ decline of more than 20% in the previous year but had other indications for LT (Group 2). Demographic and clinical features were compared between the two groups. Results. Of 1488 patients registered in CFRT, 58 had a need for LT. Twenty patients were included in Group 1 and others in Group 2. Our findings did not reveal any significant variations in treatment, chronic infection status, or complications between the two groups. The average weight z-score was significantly higher in Group 1. Positive correlations were detected between weight z-score and FEV₁ in 2017 in Group 1 and between FEV₁ values in 2017 and 2018 in Group 2. Conclusions. There appears to be a relationship between the nutritional status and weight z-scores of CF patients and pulmonary function, which may indirectly affect the need for lung transplantation referral. © 2023, Turkish National Pediatric Society. All rights reserved.Item Factors associated with pulmonary function decline of patients in the cystic fibrosis registry of Turkey: A retrospective cohort study(John Wiley and Sons Inc, 2024) Emiralioğlu N.; Çakır B.; Sertçelik A.; Yalçın E.; Kiper N.; Şen V.; Altıntaş D.U.; Serbes M.; Çokuğraş H.; Kılınç A.A.; Başkan A.K.; Hepkaya E.; Yazan H.; Türel Ö.; Kafi H.M.; Yılmaz A.İ.; Ünal G.; Çağlar T.; Damadoğlu E.; Irmak İ.; Demir E.; Öztürk G.; Bingöl A.; Başaran E.; Sapan N.; Aslan A.T.; Asfuroğlu P.; Harmancı K.; Köse M.; Hangül M.; Özdemir A.; Tuğcu G.; Polat S.E.; Özcan G.; Gayretli Z.G.; Keskin Ö.; Bilgiç S.; Yüksel H.; Özdoğan Ş.; Topal E.; Çaltepe G.; Can D.; Ekren P.K.; Kılıç M.; Süleyman A.; Eyüboğlu T.Ş.; Cinel G.; Pekcan S.; Çobanoğlu N.; Çakır E.; Özçelik U.; Doğru D.Background: The decline in pulmonary function is a predictor of disease progression in patients with cystic fibrosis (CF). This study aimed to determine the decline rate of percent predicted forced expiratory volume in 1 s (ppFEV1) based on the data of the CF Registry of Turkey. The secondary aim was to investigate the risk factors related to the decline in ppFEV1. Methods: A retrospective cohort study of CF patients over 6 years old, with pulmonary function data over at least 2 years of follow-up was extracted from the national CF registry for years 2017–2019. Patients were classified according to disease severity and age groups. Multivariate analysis was used to predict the decline in ppFEV1 and to investigate the associated risk factors. Results: A total of 1722 pulmonary function test results were available from 574 patients over the study period. Mean diagnostic age was older and weight for age, height for age, and body mass index z scores were significantly lower in the group of ppFEV1 < 40, while chronic Pseudomonas aeruginosa (p <.001) and mucoid P. aeruginosa colonization (p <.001) were significantly higher in this group (p <.001). Overall mean annual ppFEV1 decline was −0.97% (95% confidence interval [CI] = −0.02 to −1.92%). The mean change of ppFEV1 was significantly higher in the group with ppFEV1 ≥ 70 compared with the other (ppFEV1 < 40 and ppFEV1: 40–69) two groups (p =.004). Chronic P. aeruginosa colonization (odds ratio [OR] = 1.79 95% CI = 1.26–2.54; p =.01) and initial ppFEV1 ≥ 70 (OR = 2.98 95% CI = 1.06-8.36), p =.038) were associated with significant ppFEV1 decline in the whole cohort. Conclusions: This data analysis recommends close follow-up of patients with normal initial ppFEV1 levels at baseline; advocates for early interventions for P. aeruginosa; and underlines the importance of nutritional interventions to slow down lung disease progression. © 2024 Wiley Periodicals LLC.Item Comparison of clinical features of cystic fibrosis patients eligible but not on CFTR modulators to ineligible for CFTR modulators(John Wiley and Sons Inc, 2024) Nayır Büyükşahin H.; Emiralioğlu N.; Yalçın E.; Şen V.; Selimoğlu Şen H.; Arslan H.; Başkan A.K.; Çakır F.B.; Koray C.F.; Yılmaz A.İ.; Ercan F.; Altıntaş D.U.; Serbes M.; Keskin Ö.; Arık E.; Gülen F.; Barlık M.; Karcıoğlu O.; Damadoğlu E.; Köse M.; Ersoy A.; Bingöl A.; Başaran E.; Çakır E.P.; Aslan A.T.; Canıtez Y.; Korkmaz M.; Özdemir A.; Harmancı K.; Soydaş Ş.S.; Hangül M.; Yüksel H.; Özcan G.; Korkmaz P.; Kılıç M.; Gayretli Aydın Z.G.; Çaltepe G.; Can D.; Doğru S.; Kartal Öztürk G.; Süleyman A.; Topal E.; Özsezen B.; Hızal M.; Demirdöğen E.; Ogun H.; Börekçi Ş.; Yazan H.; Çakır E.; Şişmanlar Eyüboğlu T.; Çobanoğlu N.; Cinel G.; Pekcan S.; Özçelik U.; Doğru D.Introduction: Cystic fibrosis transmembrane conductance regulator (CFTR) modulator drugs target the underlying defect and improve CFTR function. They are a part of standard care in many countries, but not all patients are eligible for these drugs due to age and genotype. Here, we aimed to determine the characteristics of non-eligible patients for CFTR modulators in the CF registry of Turkey (CFRT) to highlight their clinical needs. Methods: This retrospective cohort study included CF patient data from the CFRT in 2021. The decision of eligibility for the CFTR modulator was determined according to the ‘Vertex treatment-Finder' on the Vertex® website. Demographic and clinical characteristics of patients were compared between eligible (group 1) and ineligible (group 2) groups for CFTR modulators. Results: Among the study population (N = 1527), 873 (57.2%) were in group 1 and 654 (42.8%) were in group 2. There was no statistical difference between groups regarding sex, meconium ileus history, diagnoses via newborn screening, FEV1 z-score, CF-associated complications, organ transplant history, and death. Patients in group 2 had a higher incidence of pancreatic insufficiency (87.7% vs. 83.2%, p =.010), lower median height z-scores (−0.87 vs. −0.55, p <.001), lower median body mass index z-scores (−0.65 vs. −0.50, p <.001), longer days receiving antibiotics due to pulmonary exacerbation (0 [interquartile range, IQR: 0–2] vs. 0 [IQR: 0–7], p = 0.001), and more non-invasive ventilation support (2.6% vs. 0.9%, p = 0.008) than patients in group 1. Conclusion: The ineligible group had worse clinical outcomes than the eligible group. This highlights their need for life-changing drugs to improve clinical outcomes. © 2024 Wiley Periodicals LLC.Item Comparison of refugee patients with cystic fibrosis and their counterpart children from Turkey during the war(Springer Science and Business Media Deutschland GmbH, 2024) Yılmaz A.İ.; Pekcan S.; Eyüboğlu T.Ş.; Hangül M.; Arslan H.; Kılınç A.A.; Çokuğraş H.; Arık E.; Keskin Ö.; Özdemir A.; Ersoy M.; Ersoy A.; Köse M.; Özsezen B.; Ünal G.; Ercan Ö.; Girit S.; Oksay S.C.; Gökdemir Y.; Karadağ B.; Şen V.; Çakır E.; Yüksel H.; Tekin M.N.; Aslan A.T.Since the outbreak of the Syrian civil war in 2011, the population of Arab refugees in Turkey has rapidly increased. While cystic fibrosis (CF) is believed to be rare among Arabs, recent studies suggest it is underdiagnosed. This study aims to present the demographic, clinical, and genetic characteristics of CF patients among Arab refugees in Turkey. Additionally, a comparison is made between the findings in the National CF Registry 2021 in Turkey (NCFRT) and the refugee CF patient group. The study included refugee patients between the ages of 0 and 18 years who were diagnosed with CF and received ongoing care at pediatric pulmonology centers from March 2011 to March 2021. The study examined demographic information, age at diagnosis, age of diagnosis of patients through CF newborn screening (NBS), presenting symptoms, CF transmembrane conductance regulator (CFTR) mutation test results, sputum culture results, weight, height, and body mass index (BMI) z score. Their results were compared with the NCFRT results. The study included 14 pediatric pulmonology centers and 87 patients, consisting of 46 (52.9%) boys and 41 (47.1%) girls. All of the patients were Arab refugees, with 80 (92%) being Syrian. All the patients were diagnosed in Turkey. The median age at diagnosis of patients was 22.33 (interquartile range, 1–258) months. The median age of diagnosis of patients through NBS was 4.2 (interquartile range, 1–12) months. The median age of older patients, who were unable to be included in the NBS program, was 32.3 (interquartile range, 3–258) months. Parental consanguinity was observed in 52 (59.7%) patients. The mutation that was most frequently found was F508del, which accounted for 22.2% of the cases. It was present in 20 patients, constituting 32 out of the total 144 alleles. There was a large number of genetic variations. CFTR genotyping could not be conducted for 12 patients. These patients had high sweat tests, and their genetic mutations could not be determined due to a lack of data. Compared to NCFRT, refugee patients were diagnosed later, and long-term follow-up of refugee CF patients had significantly worse nutritional status and pseudomonas colonization. Conclusion: Although refugee CF patients have equal access to NBS programs and CF medications as well as Turkish patients, the median age at diagnosis of patients, the median age of diagnosis of patients through NBS, their nutritional status, and Pseudomonas colonization were significantly worse than Turkish patients, which may be related to the difficulties of living in another country and poor living conditions. The high genetic heterogeneity and rare mutations detected in the refugee patient group compared to Turkish patients. Well-programmed NBS programs, thorough genetic studies, and the enhancement of living conditions for refugee patients in the countries they relocate to can have several advantages such as early detection and improved prognosis. (Table presented.) © The Author(s) 2024.Item 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