Introduction: Primary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by alterations in ciliary structure and function. Without a unique gold standard diagnostic test, the European Respiratory Society and the American Thoracic Society recommend using various diagnostic techniques to improve accuracy. This study aimed to demonstrate the effectiveness of immunofluorescence (IF) analysis in the diagnosis of PCD cases with uncertain genetic results and to demonstrate the importance of international collaboration in the diagnosis of PCD.Methods: In collaboration with IF specialists at the University of Münster, individuals with inconclusive results in the Marmara University PCD panel consisting of the 22 most common genes and clinically suggestive of PCD were included in the study. IF imaging determined the subcellular localization of DNAH5 and GAS8 in respiratory epithelial cells. Nasal nitric oxide measurements, high-speed video microscopy (HSVM) analysis, and genetic analyses were performed.Results: 19 patients were evaluated. The median age (25–75p) was 15 years (10–20 years) with 12 (63.2%) males. Three cases (15.7%) showed an absence of DNAH5, and one (5.3%) had a proximal distribution of DNAH5 in the ciliary axoneme. One case (5.3%) had cells without cilia, indicating a possible ciliogenesis defect. All individuals with abnormal IF analysis had a PICADAR score of 6 or above, and their cilia were immotile in HSVM.Discussion: Consistent with the IF finding suggesting a ciliogenesis defect, further genetic analysis revealed biallelic pathogenic variants in CCNO in the affected individual. The absence of DNAH5 in the respiratory epithelial cells of an individual carrying heterozygous pathogenic splice variants in DNAH5 suggests the need for further genetic analysis. This study underscores the importance of international collaboration in diagnosing rare diseases like PCD.

Background: Although modulator therapies have proven effective in cystic fibrosis (CF) access is limited due to reimbursement issues in Turkey. We aimed to examine anxiety and depression levels of people with CF (pwCF) and their caregivers according to their access to modulator treatment.Methods: Participants genetically eligible for elexacaftor/tezacaftor/ivacaftor (ETI) were divided into Group 1 (access via court decision, not yet on treatment) and Group 2 (unable to access due to reimbursement issues). Genetically ineligible participants formed Group 3. All pwCF and parents of those under 18 were screened for depression by the Patient Health Questionnaire‐9 (PHQ‐9) and for anxiety by the Generalized Anxiety Disorder‐7 (GAD‐7). Surveys for Group 1 patients were conducted just before starting ETI. Binary logistic regression analysis was performed to evaluate the effects of independent variables on anxiety and depression in pwCF and their primary caregivers.Results: A total of 389 pwCF and 285 caregivers were included. Group 3 (ineligible) had the highest depression rate (72.9%, n = 35), while Group 1 (pre‐ETI) had the lowest (50.0%, n = 35). Median PHQ‐9 scores were significantly lower in Group 1 (p < 0.006). Anxiety rates were higher in Groups 2 and 3 compared to Group 1 (p = 0.011 and p = 0.003, respectively). Access to ETI reduced the odds of anxiety by 67.7% (p = 0.029). Caregiver GAD‐7 scores showed a weak negative correlation with pwCF age (r = −0.117).Conclusion: Limited access to modulator therapies is associated with higher depression and anxiety symptoms among pwCF. Addressing these barriers is critical to improving their well‐being.

Background: Cystic fibrosis (CF) patients have a limited life expectancy, but significant medical advances now highlight the need for successful transition programs from pediatric to adult care. The goal of this project was to introduce the transition program CF R.I.S.E (Responsibility. Independence. Self‐care. Education.) to a CF center with limited resources at Marmara University (MU). Methods: The program was adapted and translated into Turkish with the CF Foundation's permission. A team of experts collaborated to develop educational materials for patients and families. After translation and implementation of the CF S.O.B.E program, 11 Knowledge Assessment Questionnaire (KQA) tests were administered online to the patients aged between 16 and 25 years to assess the lack of patient knowledge. Results: The CF R.I.S.E program was successfully implemented within 6 months. A pilot study showed positive feedback from randomly selected patients, indicating the program's effectiveness and understandability. The mean age of the patients was 19.4 ± 2.9 years, and 42 (52%) were female. The mean forced expiratory volume (FEV1pp) was 76.3 ± 23.2. Fourteen (17.3%) and 4 (4.9%) of the patients colonized with Pseudomonas aeruginosa and Methicillin‐resistant Staphylococcus aureus (MRSA), respectively. Fifteen (18.5%) were on modulator therapy. Eleven Knowledge Assessment Questionnaires (KAQ) surveys were administered to 81 patients. The percentage of correct responses to the KAQs ranged from 47.9% to 68.3%. Conclusion: MU CF Center in Turkey implemented the CF S.O.B.E (Responsibility, Self‐care, Independence, and Education in Turkish) program. The center aims to make the program a regular practice and expand collaboration with adult clinics. Future studies will assess its long‐term impact and applicability in different health settings. The final goal is to disseminate the program's resources and promote structured transition practices across the country.

Backgrounds: Genetic variants in CF transmembrane conductance regulator ( CFTR ) gene causes cystic fibrosis (CF), a prevalent autosomal recessive disorder. More than 2000 variants in CFTR have been described as disease causative. This study aims to delineate the genotypic and phenotypic landscape of CF among people with CF (pwCF) followed at the largest CF center in Turkey. Methods: We conducted a descriptive and retrospective analysis of 481 patients registered with the European CF Society Patient Registry and followed at Marmara University Selim Çöremen CF Center from 2015 onwards. Comprehensive CFTR analysis was utilized for genetic diagnosis. Besides the whole cohort, novel variants and complex alleles were also described. Results: Our cohort exhibited a broad spectrum of CFTR variants, with 136 different variants detected, indicating substantial genetic diversity. The F508del variant was less prevalent in our cohort compared to US and European averages, which could reflect unique genetic and demographic characteristics of the Turkish population. Additionally, we identified nine novel variants in 12 alleles, which enhances the understanding of CF's genetic complexity in this region, and complex alleles in 32 pwCF. Conclusion: Our research underscores the heterogeneity of CFTR variants in Turkey and highlights the necessity for extensive genetic profiling particularly for diverse populations to provide effective personalized treatment strategies. It is crucial to understand the full spectrum of CFTR variants with the advent of CFTR modulators.