Satı Özkan Tabakçı

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.

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.

Background: Advances in genetic analysis techniques and strategies have enabled the identification of rare novel genetic entities in children's interstitial lung disease (chILD). Aims: To describe an extensive array of demographic, clinical, radiological, and laboratory data from a national registry of children with diffuse lung disease caused by rare and novel genetic variants. Study Design: Retrospective cohort study. Methods: This study used data from the chILD Türkiye (chILD‐TR) registry to analyze rare genetic chILD subtypes, excluding surfactant protein gene variants, ABCA3 , and NKX2‐1 , between November 2021 and January 2024. Of 671 patients in chILD‐TR, 182 underwent genetic analysis excluding surfactant protein‐related variants, resulting in 37 patients identified with rare genetic variants included in the study. Results: Among the 37 patients with rare genetic variants, 19 (51.4%) were male, and the median age at diagnosis was 40.5 months (IQR 15.5–115.5). Genetic analysis conducted on 15 patients identified COPA , STAT3 , STING1 , ADA , ZNFX1 , PIK3CD , PLCG2 , OAS1, CCR2, RNF168 and ATM gene variants, which are associated with immunodeficiency/dysregulation and autoinflammation; 15 NPC1 , SMPD1 , GBA1 , SLC7A7 , MARS1 , FARSB , and PEPD genes, variants linked to inherent metabolic errors. Seven patients were found with TBX4 , SLC34A2 , PLG , and SMAD4 gene variants. All patients were born at term, and five (13.5%) of them were small for gestational age. Two patients (5.4%) had previously been on a mechanical ventilator in the neonatal intensive care unit, 25(67.6%) had familial consanguinity, and 23 (62.1%) had comorbid systemic disease. Thirteen patients (35.1%) required oxygen support. All patients underwent chest computed tomography scans at initial assessment, showing ground‐glass opacities in 29 (78.3%), infiltrations in 27 (72.9%), and interlobular septal thickening in 20 (54%). Eight patients (21.6%) received oral steroids, and six (16.2%) received pulse steroids in addition to their primary treatments for systemic diseases. Conclusions: Interstitial lung disease rarely occurs in children, but increased awareness and genetic testing may enable earlier diagnosis. Recognizing that diffuse parenchymal lung disease can occur in rare systemic diseases may improve diagnoses and treatment.

Introduction‐Aim: The study evaluates the long‐term effect of COVID‐19 on lung function in children, considering symptoms, physical examination findings, radiologic and laboratory evaluations during the acute infection period (AIP). Material and Methods: This prospective, longitudinal, multicenter study involved 270 patients with confirmed SARS‐CoV‐2 infection. Patients underwent pulmonary function tests (PFTs) (spirometry, diffusion capacity of the lung for carbon monoxide (DLCO), and plethysmography) at the 3rd and 6th months of follow‐up. Clinical characteristics, radiological, and laboratory findings during AIP were analyzed to establish the relationship with PFT parameters on long‐term follow‐up. Results: The mean age was 12.97 ± 3.43 years (6–18 years), and 141(52.2%) were girls. Most patients had mild disease, while 193 patients were classified as having pneumonia. Overall mean PFT parameters were normal at the 3rd and 6th months, and FEV ₁ %, FVC%, and DLCOadj% showed statistically significant longitudinal changes. Abnormal DLCOadj was observed in patients with COVID‐19 pneumonia at the 6th month when compared with the non‐pneumonia group ( p = 0.046). At the 3rd month follow‐up, comorbidities were independently associated with abnormal FEV ₁ (OR 6.30, 95% CI 2.61–15.17, p < 0.001) and abnormal FVC (OR 3.47, 95% CI 1.72–7.00, p < 0.001). Respiratory system related abnormal physical examination findings were also independently associated with abnormal FEV ₁ (OR 3.04, 95% CI 1.13–8.21, p = 0.028). Dyspnea showed a borderline association with abnormal FVC (OR 2.11, 95% CI 0.98–4.54, p = 0.057). Pathologic chest radiography, interlobular septal thickening on thorax CT, ground‐glass opacity, fever, dyspnea, and respiratory system related abnormal physical examination findings during the AIP were associated with abnormal PFT parameters during follow‐up. Disease severity scores did not differ significantly between children with normal and abnormal. Conclusions: Most children had preserved mean pulmonary function during follow‐up after SARS‐CoV‐2 infection. However, children with COVID‐19 pneumonia, comorbidities, and respiratory system related abnormal physical examination findings during the AIP may be at increased risk for persistent functional abnormalities. Follow‐up assessment in higher‐risk children should include spirometry, and DLCO measurement should be considered when feasible.

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.

Objective: Our study focused on assessing the anxiety levels of children and adolescents being monitored for hypertension (HTN), as well as the burnout levels experienced by their caregivers. Material and Methods: The study included 67 patients, aged 12 and older, who were monitored for HTN as the study group, and 60 children and adolescents, matched for gender and age, without chronic illnesses, were selected from the pediatric outpatient clinic for routine check-ups to serve as the control group. The State Anxiety Inventory (STAI-1), Trait Anxiety Inventory (STAI-2), and Beck Anxiety Inventory (BAI) were applied to the children, while the Maslach Burnout Inventory (MBI) was applied to their parents. Results: We found the mean STAI-1 scores of the study group lower than the control group (43.6±6.4 vs. 51.6±15.4; p <0.001). However, no difference was detected between these groups in terms of the STAI-2 scores (p= 0.140). The median BAI scores were higher in study group than control group (10.0 vs.6.5; p=0.010) but no significant difference have been found in terms of severity of anxiety (p=0.170). There was no difference in caregivers between the emotional exhaustion (MBI-EE) and personal accomplishment (MBI-PA) subscale scores of the MBI of the caregivers (p=0.280, p=0.340 respectively). Conclusion: Our study revealed low anxiety levels among HTN patients and low burnout scores in their families. However, we believe that continuous psychiatric support for both patients and their families may be essential for managing chronic conditions, indicating the need for further research in this area regard.

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.

Clinical studies have shown that Elexacaftor-Tezacaftor-Ivacaftor (ETI) improves lung disease and body weight in individuals with cystic fibrosis (CF); however, gastrointestinal system effects remain unclear. The purpose of this study was to evaluate exocrine pancreatic function using fecal elastase-1 (FE-1) levels in CF patients receiving ETI therapy and to assess changes in fat-soluble vitamin levels specifically within the pancreatic-insufficient (PI) subgroup. We retrospectively evaluated FE-1 levels before and during ETI treatment in the entire study group. Additionally, sweat chloride levels and growth parameters were assessed before and after follow-up ETI therapy in the entire study group. Also, vitamin A, D, E, PT, and INR levels were evaluated in PI patients before and after follow-up ETI treatment. The study included 20 pediatric CF patients with baseline FE-1 values. PI was present in 18 patients. The median age at the start of ETI therapy was 9.5 years (IQR 7.7–13.5; range 3–21 years). The median time between the baseline FE-1 test and the last FE-1 test was 12.0 months (IQR 12.0–19.5). The median FE-1 value before ETI therapy was 20.6 mcg/g (IQR 20.6–31.9), and after follow-up, 20.6 mcg/g (IQR 20.6–32.5) in 18 PI patients. Both PS patients maintained FE-1 levels ≥ 200 mcg/g before and after follow-up on ETI therapy. A significant increase in vitamin A levels was observed in PI patients, with a mean rise of 122.8 µg/L (p = 0.016). No significant change was observed in vitamin E levels (mean change 0.63 ± 4.14 µg/L; p = 0.304). Conclusion: In our study, no significant improvement in FE-1 levels was observed in pediatric CF patients receiving ETI therapy, whereas a substantial increase in vitamin A levels was found in patients with PI. These findings suggest that the effect of ETI therapy on pancreatic function may be limited and that its impact on exocrine pancreatic function should be further investigated. What is Known: • Exocrine pancreatic insufficiency is common in cystic fibrosis and is typically assessed using fecal elastase-1 (FE-1). • CFTR modulator therapies, especially ETI, improve respiratory and nutritional outcomes by targeting CFTR function, but their impact on pancreatic exocrine function in pediatric patients remains unclear. C What is New: • In this real-life pediatric cohort, no significant increase in FE-1 levels was observed during ETI treatment. • Despite improvements in CFTR function and nutritional status, these changes were not accompanied by recovery of pancreatic exocrine function.