Ayyüce Ünlü

Objective: Chronic cough is a common and challenging cause of pediatric respiratory visits. Differentiating underlying causes, ranging from infection to airway inflammation and aspiration, requires detailed clinical evaluation. Flexible bronchoscopy (FB) can provide additional information regarding lower airway pathology. This study aimed to investigate cough phenotype, radiological and bronchoscopic findings, bronchoalveolar lavage fluid (BALF) cytology, and treatment response in children undergoing FB for chronic cough. Methods: This retrospective study included 30 children who underwent FB at a tertiary pediatric center between January 2020 and September 2025. Demographic, clinical, radiological, bronchoscopic, and BALF cytology data were analyzed. Bronchoalveolar lavage samples were classified according to predominant inflammatory cell type. Results: The median age was 10.2 years (Q1-Q3: 5.7-15.0), and 20/30 (66.7%) patients had wet/ productive cough. Chest computed tomography was available in 27 patients, with abnormalities detected in 20 (74.1%); atelectasis was the most common finding (11/27, 40.7%). Bronchoalveolar lavage fluid cytology was macrophage-dominant in 21/30 (70.0%) and neutrophil-dominant in 9/30 (30.0%). Lipid-laden macrophages (LLMs) were identified in 7/30 (23.3%). Neutrophilpredominant BALF was more common in patients with bronchoscopic findings suggestive of infection (P = .013). Patients with LLM positivity showed symptomatic improvement following antireflux therapy. Conclusion: Bronchoalveolar lavage fluid cytology may provide supportive information regarding airway inflammatory patterns in selected children with chronic cough. Interpretation should remain cautious because of the small sample size and retrospective single-center design. Integrating cytologic findings with clinical and bronchoscopic data may support clinical evaluation in children with chronic cough.

Background: Neonatal interstitial lung disease (ILD) encompasses a heterogeneous group of rare disorders, among which surfactant dysfunction disorders represent a clinically distinct and severe subgroup. Diagnosis is challenging because presentation frequently overlaps with common neonatal respiratory conditions, and classification in neonates remains particularly difficult. Objectives: To describe the clinical characteristics, genetic spectrum, and outcomes of neonatal-onset childhood interstitial lung disease (chILD), with a focus on etiology-related differences in clinical presentation between surfactant dysfunction disorders and other chILD subtypes. Methods: This retrospective study included 14 patients with neonatal-onset chILD diagnosed between 2019 and 2025. Patients underwent a standardized evaluation protocol and were stratified by surfactant dysfunction mutation status to explore etiology-related differences in clinical presentation and outcome. Results: Fourteen patients were included (50% male; 42.9% consanguineous; 50% premature). Pathogenic or likely pathogenic variants were identified in 7/14 patients (50%), most commonly in ABCA3 (21.4%) and NKX2-1 (14.3%). Patients with surfactant dysfunction mutations presented earlier (symptom onset <24 h in 100% vs. 77.8%) and required higher peak oxygen support (median FiO₂ 100% vs. 55%), whereas those with other etiologies had a longer but less fatal course. Pulmonary hypertension was present in 42.9%. Mortality was 21.4% after a median follow-up of 36 months. Conclusions: In this small cohort, surfactant dysfunction disorders showed numerically earlier symptom onset, higher oxygen requirements, and higher mortality compared with other etiologies, although between-group differences did not reach statistical significance. Repeated surfactant requirements or failure to wean from respiratory support should prompt early systematic clinical, radiological, and genetic evaluation, particularly in preterm infants, in whom diagnostic delay may occur due to clinical overlap with respiratory distress syndrome.

Objective: Obstructive sleep apnea (OSA) in children with morbid obesity is an important health problem requiring early diagnosis and intervention due to its high prevalence and multidimensional clinical effects. This study aimed to assess the Pediatric Sleep Questionnaire (PSQ)-based OSA risk in children with morbid obesity and to evaluate associated clinical and laboratory findings. Materials and Methods: This retrospective cross-sectional study included children with morbid obesity who were admitted to a tertiary pediatric pulmonology outpatient clinic between 2021 and 2023 and followed up for at least one year. Morbid obesity was defined as a body mass index (BMI) ≥99th percentile. Patient clinical characteristics were obtained from the electronic medical record system. OSA was evaluated using the PSQ. Patients were divided into two groups according to the PSQ cut-off value: Group 1 included children with PSQ scores 5, and a these three patients were in Group 2 based on their PSQ scores. Conclusion: In this study, the risk of OSA in children with morbid obesity, as assessed by the PSQ, was found to be high. Our findings highlight the importance of clinical awareness of OSA in children with morbid obesity. Further PSG-based studies with larger sample sizes are needed to better establish the potential role of the PSQ as a feasible alternative screening tool for early diagnosis.

Aim: To evaluate long-term respiratory outcomes and identify factors associated with persistent respiratory symptoms (PRS) in patients who have undergone surgery for congenital diaphragmatic hernia (CDH). Methods: This retrospective study included 129 surviving patients with CDH who underwent surgical repair at a tertiary referral center between 2017 and 2025.Demographic, perinatal, surgical, and clinical data were collected.PRS were defined as wheezing, recurrent lower respiratory tract infections, chronic cough, need for supplemental oxygen at discharge, and/or FEV₁ <80% predicted during post-discharge follow-up. Results: Median age was 53 days, and median follow-up was 39.5 months. PRS were identified in 32.0% of patients(Figure-1).PRS were significantly associated with recurrent hospitalizations, thoracotomy, chronic radiographic changes, and the need for supplemental oxygen (p<0.05).Recurrent hospitalization was the strongest independent predictor of PRS (OR:21.3, 95% CI:3.6–126.5; p<0.001(Figure-2). Conclusion: Approximately one-third of patients with CHD have persistent respiratory symptoms, and recurrent hospitalizations are the main risk factor for PRS. erj;68/suppl_70/PA1732/F1 F1 F1 erj;68/suppl_70/PA1732/F2 F2 F2

Cystic fibrosis (CF) results from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, causing multisystem disease and impaired quality of life. CFTR modulators have improved pulmonary and nutritional outcomes, yet potential metabolic effects such as dyslipidemia remain a concern, particularly in adults. Pediatric data are limited. This study evaluated the effects of CFTR modulators on lipid and lipoprotein profiles in children with CF. This retrospective study was conducted at a tertiary pediatric pulmonology center. Body mass index (BMI) Z-scores, lung function tests, and serum lipid profiles were compared between baseline and six months after initiation of CFTR modulator therapy. Twenty-six patients were included finally. The median age was 11 (5.9-15.6) years; 53.8% were female, and 80.8% received elexacaftor/tezacaftor/ivacaftor. After six-month therapy, significant improvements were observed in BMI (p = 0.047), FEV₁ (p = 0.005), and FVC Z-scores (p = 0.001). Although HDL, LDL, VLDL, triglycerides, and total cholesterol increased numerically, none reached statistical significance. No difference was found between BMI changes and lipid alterations. Over six months of continuous CFTR modulator therapy, we observed improvements in pulmonary and nutritional outcomes without evidence of clinically meaningful lipid deterioration. This study adds real-world pediatric data regarding lipid profile changes during CFTR modulator therapy. While these therapies significantly improve pulmonary and nutritional outcomes, we observed no evidence of lipid deterioration over six months of treatment. These findings contribute to the evolving understanding of the systemic effects of CFTR modulators in childhood and underscore the importance of ongoing cardiometabolic evaluation as survival improves.

Primary ciliary dyskinesia (PCD) is a chronic disorder of mucociliary clearance that leads to recurrent respiratory infections and progressive structural lung disease. Lung ultrasound (LUS) is a radiation-free bedside imaging modality; however, its use in PCD is limited, and no validated scoring system is available. This study aimed to evaluate LUS findings in children with PCD; assess the relationship between LUS aeration score and clinical characteristics, pulmonary function parameters, and chest radiograph severity; and to describe ultrasound-detected atelectatic findings. This prospective cross-sectional study included children with PCD evaluated at a tertiary center between December 2025 and February 2026. Lung ultrasound was performed using a standardized 12-zone scanning protocol and assessed using a conventional LUS aeration score (0–36). Atelectasis was recorded as a separate sonographic finding and was not incorporated into the scoring system. Chest radiographs were evaluated using the modified Chrispin–Norman score (CNS), and spirometric measurements were obtained in eligible patients. Associations between LUS aeration score, radiographic severity, and clinical parameters were analyzed. A total of 42 children with primary ciliary dyskinesia were included, of whom 24 (57.1%) were male. The median LUS aeration score was 1.0 (0.0–2.0), and the median modified CNS was 4.0 (2.0–6.0). A moderate positive correlation was observed between the LUS aeration score and CNS (r = 0.430, p = 0.005). The LUS aeration score also showed a moderate positive correlation with the number of respiratory exacerbations in the previous year (r = 0.342, p = 0.026) and with the number of bronchiectatic lobes (r = 0.490, p = 0.001). Atelectatic findings detected by LUS were associated with significantly higher CNS scores (p = 0.031), although they were not associated with higher LUS aeration scores. Conclusion: Lung ultrasound is a valuable, radiation-free, bedside, and reproducible imaging modality for assessing structural lung involvement in children with PCD. The LUS aeration score correlates with radiographic severity and clinical disease burden, supporting its potential role as a complementary tool in clinical follow-up. Atelectatic findings detected by LUS appear clinically significant and are associated with greater radiographic severity. However, according to current guidelines, atelectasis should be documented as an individual sonographic finding rather than included in the scoring system. Taken together, these findings suggest that lung ultrasound may help assess both structural lung involvement and overall disease burden in children with primary ciliary dyskinesia. What is Known: • Lung ultrasound is a radiation-free bedside tool, but its use in primary ciliary dyskinesia is limited and no validated LUS-based scoring system is available. • Atelectasis is a common and clinically important sign of lung disease in children with primary ciliary dyskinesia. What is New: • In children with primary ciliary dyskinesia, the conventional LUS aeration score shows a moderate correlation with chest radiograph severity (modified Chrispin–Norman score), frequency of respiratory exacerbations, and the number of bronchiectatic lobes. • Ultrasound-detected atelectasis — documented as a separate descriptive finding according to current international guidelines — is linked to significantly higher radiographic disease severity, and lung ultrasound may serve as a radiation-free, complementary bedside tool for ongoing monitoring of structural lung disease in children with primary ciliary dyskinesia.

Objective: Bronchoalveolar lavage (BAL) is a widely used diagnostic tool for evaluating lower respiratory tract infections and pulmonary pathologies in children. BAL provides valuable diagnostic information and can significantly influence management strategies, particularly in patients with malignancy, immunodeficiency (ID), or critical illness. This study aimed to assess the diagnostic and therapeutic value of BAL in pulmonary fungal infections. Material and Methods: This retrospective study analyzed BAL samples obtained by flexible fiberoptic bronchoscopy (FFB) between 2019 and 2024 in the Pediatric Pulmonology Department of a tertiary referral center. Among 668 patients who underwent FFB, those with BAL fungal culture, BAL Aspergillus DNA PCR, and BAL galactomannan antigen (GM) testing were included. Demographic, clinical, radiological, and bronchoscopic findings, as well as antifungal treatment modifications based on BAL results, were evaluated. Results: BAL results from 668 patients were reviewed. Fungal culture was performed in 236 (35.3%), Aspergillus DNA PCR in 127 (19%), and GM in 121 (18.1%) patients. Among those tested for fungal culture, 58.9% were male, with a mean age of 7.0 years (±5.7). Fungal culture positivity was found in 26 (11%) patients: Candidaalbicans (n=14), Aspergillus spp. (n=5), Candidadubliniensis (n=3), Aspergillus fumigatus (n=3), and Penicillium spp. (n=1). Culture positivity was significantly higher in patients with malignancy (p=0.011). BAL Aspergillus DNA PCR was positive in two patients, and BAL GM in five. Based on BAL results, antifungal therapy was modified in seven patients. Conclusion: BAL fungal culture, BAL GM, and Aspergillus PCR testing are valuable diagnostic tools for pulmonary fungal infections in children, especially those with malignancy or immunodeficiency (ID). The observed treatment modifications following BAL results emphasize their clinical importance not only in establishing diagnosis but also in guiding and optimizing antifungal therapy.

Introduction: Cystic fibrosis (CF) is an autosomal recessive disorder caused by variants in the CFTR gene and shows marked genetic heterogeneity in diverse populations. Although next‐generation sequencing (NGS) has significantly improved CFTR variant detection, it may fail to identify large exon deletions or duplications, leaving the CFTR genotype incomplete in some patients. This study evaluated the diagnostic contribution of the multiplex ligation‐dependent probe amplification (MLPA) method in pediatric CF cases with incomplete CFTR genotyping after NGS. Methods: A total of 51 pediatric patients who were evaluated for CF diagnosis or suspicion at our center between 2019 and 2024 and had incomplete CFTR genotyping after NGS were retrospectively reviewed. MLPA analysis was performed on these patients. Clinical data, sweat chloride test results, genetic analysis findings, and eligibility for modulator treatment were evaluated. Results: MLPA analysis detected deletions in the CFTR gene in 12 cases (23.5%). The most frequently observed deletions were at exons 2 and 11. In 6 cases where no pathogenic CFTR variant was detected by NGS analysis, large exon deletions were identified by MLPA. The remaining 39 cases were evaluated after NGS and MLPA. CF was excluded in 22 of these cases, whereas clinical suspicion persisted in 17 patients despite negative genetic results. This group was referred for further molecular analysis. Conclusion: MLPA is a complementary method that contributes to the detection of gene rearrangements in cases where CFTR genotyping is incomplete after NGS. Using MLPA as an additional analytical tool in populations with significant genetic heterogeneity may help characterize CFTR variants more comprehensively.

Background/aim: Childhood interstitial lung diseases (chILD) constitute a rare and clinically complex group of disorders. This study aimed to characterize the clinical, radiological, and genetic features, as well as the outcomes, of chILD in a Turkish cohort classified according to the chILD-EU framework. Materials and methods: We retrospectively reviewed the medical records of 84 pediatric patients diagnosed with chILD between 2017 and 2024 at a tertiary referral center in Türkiye. Patients were categorized according to the chILD-EU classification. Clinical variables, imaging findings, genetic analyses, pulmonary function test results, and Fan severity scores were systematically assessed. Logistic regression analysis was performed to identify independent predictors of clinical instability. Results: The median age at diagnosis was 6.0 years (IQR: 1.1–12.9). Surfactant dysfunction disorders (A4) and immune- or environmental-related diseases (B2) were the most frequently identified subtypes. Hypoxia was observed in 36 of 84 patients (42.8%) and emerged as the strongest independent predictor of clinical instability (OR: 8.5; 95% CI: 2.2–33.0; p = 0.002). Pathogenic or likely pathogenic variants were identified in 18 of 84 patients (21.4%); among variant-positive cases, ABCA3 was the most frequently affected gene (3 of 18; 16.7%). Chest computed tomography was available in 82 of 84 patients, with ground-glass opacities being the most common finding, observed in 51 of 82 patients (62.2%). A decrease of at least one point in the Fan severity score was observed in 42 of 84 patients (p < 0.001). Mortality was 12 of 84 patients (14.3%) after a median follow-up of 3.2 years (range: 1.2–4). Conclusion: This study presents one of the largest single-center pediatric chILD cohorts reported from Türkiye. It highlights the prognostic relevance of baseline hypoxia and underscores the importance of comprehensive radiological and genetic assessment in the management of chILD.