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Öğe CFTR mutations unidentified in CFTR2 database and their phenotypic characteristics: Data from cystic fibrosis registry of Turkey(European Respiratory Soc Journals Ltd, 2020) Cinel, Guzin; Dogru, Deniz; Cakir, Erkan; Eyuboglu, Tugba Sismanlar; Cobanoglu, Nazan; Pekcan, Sevgi; Yalcin, Ebru[Abstract Not Available]Öğe Clinical features and accompanying findings of Pseudo-Bartter Syndrome in cystic fibrosis(Wiley, 2020) Sismanlar Eyuboglu, Tugba; Dogru, Deniz; Cakir, Erkan; Cobanoglu, Nazan; Pekcan, Sevgi; Cinel, Guzin; Yalcin, EbruBackground 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.Öğe Current Status of Cystic Fibrosis in Türkiye: Data from the National Registry(Galenos Publ House, 2025) Tural, Dilber Ademhan; Eyuboglu, Tugba Sismanlar; Cinel, Guzin; Cakir, Erkan; Pekcan, Sevgi; Ozcelik, Ugur; Ordukaya, Nagehan EmiraliogluOBJECTIVE: The Cystic Fibrosis Registry of T & uuml;rkiye (CFRT) was established by the Turkish Pediatric Respiratory Diseases and Cystic Fibrosis Society and has provided detailed information on demographic, clinical, genetic, and treatment-related aspects of cystic fibrosis (CF) patients since 2017. We aimed to describe the current status of CF in T & uuml;rkiye using CFRT's 2023 annual data. MATERIAL AND METHODS: Demographic, clinical, and treatment data were taken from CFRT's 2023 record. RESULTS: In 2023, 2,258 patients from 34 centers were recorded. The median age of patients was 9.1 years, and 46.9% were female, with a median age at diagnosis of 0.3 years. Only 14.9% of the patients were older than 18 years. Genetic analyses were completed in 97.3% of patients. The most common variant, F508del, had a total variant frequency of 22.1%. The median percent predicted FEV1 and FVC were 88.0 and 94.0 in those aged 6-17 years 71.0 and 84.0 in those aged >= 18 years, respectively. The median values of body mass index z-scores were-0.5, and-0.5 for patients 2-18 and older than 18 years, respectively. Chronic colonization with Pseudomonas aeruginosa was present in 17.2% of the patients. Most patients used inhaled recombinant human DNase (87.1%) and oral pancreatic enzyme replacement treatment (83.0%). CF transmembrane conductance regulator (CFTR) modulators were used by 15.9% of patients. Over the year, 24 patients died, with a median age at death of 13.3 years. CONCLUSION: The CFRT report provides a valuable resource showing the clinical and laboratory data of patients with CF in the country.Öğe Cystic fibrosis in Turkey: First data from the national registry(Wiley, 2020) Dogru, Deniz; Cakir, Erkan; Sismanlar, Tugba; Cobanoglu, Nazan; Pekcan, Sevgi; Cinel, Guzin; Yalcin, EbruBackground 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.Öğe Cystic Fibrosis Patients Eligible for Modulator Drugs: Data from Cystic Fibrosis Registry of Turkey(European Respiratory Soc Journals Ltd, 2019) Cobanoglu, Fatma Nazan; Ersoz, Deniz Dogru; Cakir, Erkan; Eyuboglu, Tugba Sismanlar; Pekcan, Sevgi; Cinel, Guzin; Yalcin, Ebru[Abstract Not Available]Öğe Evaluation of respiratory function at 6 years of age in patients with cystic fibrosis with frequent pulmonary exacerbations in the first 2 years of life(European Respiratory Soc Journals Ltd, 2023) Tabakci, Sati Ozkan; Cinel, Guzin; Uytun, Salih; Polat, Sanem Eryilmaz; Yalcin, Ebru; Kiper, Nural; Erdal, Meltem Akgul[Abstract Not Available]Öğe Lung function outcomes of cystic fibrosis patients after early-life pulmonary exacerbations: National registry analysis(Wiley, 2026) Ozkan Tabakci, Sati; Uytun, Salih; Eryilmaz Polat, Sanem; Cinel, Guzin; Yalcin, Ebru; Kiper, Nural; Akgul Erdal, MeltemBackground Pulmonary exacerbations (PEs) are associated with a subsequent decline in lung function. We aim to evaluate lung function in cystic fibrosis (CF) patients with frequent PEs in their first 2 years of age using spirometry at age 6. Methods This retrospective cohort study included CF patients who were 6 years old from the CF registry of Turkey in 2019. According to the number of PEs, patients were classified: those who had two or fewer PEs in the first 2 years of age were defined as Group 1 and those who had more than two PEs were defined as Group 2. The patients' demographics and clinical characteristics were compared between Group 1 and Group 2. Results The study included 88 patients who had data on PE from their first 2 years and completed their sixth year by 2019. Fifty-nine patients were included in Group 1 and 29 in Group 2. The mean percent-predictive FEV1 (ppFEV1), percent-predictive FVC (ppFVC) values, and the mean age at first PE were lower in Group 2 than in Group 1 (p = 0.019, p = 0.017, p < 0.001). The patients with chronic Pseudomonas aeruginosa (PA) colonization had lower mean ppFEV1 and ppFVC values than those without (p = 0.001, p = 0.001). Patients with PA in respiratory-sample culture during their first PE had lower ppFEV1 and ppFVC values than those with SA (p = 0.046; 0.018). Conclusions This study showed that more frequent PEs in the first 2 years of age and chronic PA colonization were associated with poorer FEV1, FVC, and BMI values in CF patients.Öğe Patients eligible for modulator drugs: Data from cystic fibrosis registry of Turkey(Wiley, 2020) Cobanoglu, Nazan; Ozcelik, Ugur; Cakir, Erkan; Eyuboglu, Tugba Sismanlar; Pekcan, Sevgi; Cinel, Guzin; Yalcin, EbruBackground 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.Öğe Patients with cystic fibrosis who could not receive the CFTR modulator treatment: What did they lose in 1 year?(Wiley, 2023) Uytun, Salih; Cinel, Guzin; Polat, Sanem Eryilmaz; Tabakci, Sati Ozkan; Kiper, Nural; Yalcin, Ebru; Tural, Dilber AdemhanBackgroundCystic 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. MethodsThis 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. ResultsIn 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. ConclusionsPatients 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.
