Browsing by Author "Tekin M.N."

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    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.
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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