Pediatric Pulmonology最新文献

{"title":"Pediatric Mild Asthma: Bridging Current Gaps to Improve Future Care.","authors":"Francesca Santamaria, Cristina Fontanella, Melissa Borrelli","doi":"10.1002/ppul.71800","DOIUrl":"https://doi.org/10.1002/ppul.71800","url":null,"abstract":"<p><strong>Background: </strong>Pediatric mild asthma is considered a benign condition, yet it accounts for a substantial proportion of morbidity. Characterization and management of children or adolescents with mild asthma are less explored than in adults, particularly due to its heterogeneous nature and variable course. Current definitions of mild asthma in pediatric populations vary across international guidelines or reports, limiting standardization. Although knowledge of asthma phenotypes and endotypes, and risk biomarkers has progressed notably, it is incomplete in the different pediatric age groups exhibiting mild or intermittent symptoms. Moreover, differing treatment recommendations may lead to uncertainty in clinical practice on whether using short-acting β₂-agonist monotherapy or intermittent or daily inhaled corticosteroids or the regimen with inhaled corticosteroids plus bronchodilators combined in single-inhalers.</p><p><strong>Methods: </strong>In this narrative review, we integrated evidence and recommendations from major asthma guidelines and reports complemented by selected insights from recent literature not addressed in these sources.</p><p><strong>Results: </strong>We summarized the current knowledge of pediatric mild asthma, risk factors for exacerbation, treatment recommendations, and highlighted gaps in clinical practice or questions still unanswered.</p><p><strong>Conclusions: </strong>In children and adolescents, asthma may seem only apparently mild, mainly due to overlooked or poorly controlled exacerbations. A more unified approach would improve clinical outcomes and reduce its global burden. Priorities include a standardized definition of the mild asthma phenotype in children and adolescents, a detailed examination of risk factors as early predictors of poor outcomes and of the limited access to medications and healthcare resources in low-income countries. Incorporating a broader global health perspective would provide a more comprehensive understanding of the factors influencing the care of children with mild asthma worldwide.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"61 8","pages":"e71800"},"PeriodicalIF":2.4,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13494689/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148796461","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predictors of Frequent Acute Respiratory Infections in Children With Tracheostomies.","authors":"Nicole Xia, Jennifer Henningfeld, Rebecca Steuart","doi":"10.1002/ppul.71788","DOIUrl":"10.1002/ppul.71788","url":null,"abstract":"<p><strong>Background: </strong>Children with tracheostomies experience frequent and recurrent acute respiratory infections (ARIs). While cultured respiratory pathogens can inform ARI diagnosis, it is unknown if their presence in the airway affects future ARI risk.</p><p><strong>Objective: </strong>To identify predictors of frequent (3+) ARIs within 36 months of tracheostomy.</p><p><strong>Methods: </strong>We conducted a single-center, retrospective cohort study of children with tracheostomies placed between 2010 and 2016. Medical records were reviewed for each encounter in which a respiratory culture was obtained over the 3 years post-tracheostomy. ARIs were defined using encounter ICD-9/10 codes. Logistic and Poisson regression were used to model the association between clinical and microbiologic predictor variables with having frequent (3+) ARIs and the total number of ARIs per child. Mediation analysis using stepwise regression models further evaluated the role of Pseudomonas aeruginosa.</p><p><strong>Results: </strong>Among 436 children, 631 diagnosed ARIs occurred within 36 months of tracheostomy; 20.2% of children had 3+ ARIs. P. aeruginosa was isolated in 25% of children and was more common among those with 3+ ARIs compared with 0-2 ARIs (56.8% vs 20.7%, p < 0.001). Those with early P. aeruginosa isolation were more likely to have 3+ ARIs (aOR 3.38, 95% CI 1.97-5.81), and this relationship persisted when analyzing ARIs and P. aeruginosa counts. Identification of P. aeruginosa partially mediated the relationship of ventilator dependence with ARI frequency.</p><p><strong>Conclusion: </strong>Isolation of P. aeruginosa, particularly early and repeated isolation, is associated with frequent ARIs in the 3 years after tracheostomy and is an important partial mediator. Findings may inform risk stratification and targeted treatment strategies.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"61 8","pages":"e71788"},"PeriodicalIF":2.4,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13471040/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148723519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparing Multiple Breath Washout Parameters in a Matched Cohort of Children With Cystic Fibrosis and Primary Ciliary Dyskinesia.","authors":"Lise Vanvuchelen, Astrid Vermaut, Marijke Proesmans, François Vermeulen, Mieke Boon","doi":"10.1002/ppul.71735","DOIUrl":"10.1002/ppul.71735","url":null,"abstract":"<p><strong>Background: </strong>Cystic Fibrosis (CF) and primary ciliary dyskinesia (PCD) are congenital disorders characterized by impaired mucociliary clearance, resulting in chronic airway infection, inflammation, and progressive lung damage. CF lung disease involves defective CFTR function throughout the entire airway epithelium, whereas PCD originates from dysfunction of motile respiratory cilia located predominantly in proximal airways. Diagnostic tools such as FEV₁ lack sensitivity to detect early peripheral lung damage. Lung clearance index (LCI), obtained via multiple breath washout (MBW), has emerged as a promising marker for early detection of lung abnormalities.</p><p><strong>Objectives: </strong>To compare LCI between age and FEV₁-matched people with (pw) CF and PCD (without highly effective CFTR modulator treatment), hypothesizing more abnormal LCI in CF due to more peripheral airway involvement. Secondary objectives included comparing phase III slope parameters (S_cond x VT, S_acin x VT) to explore ventilation inhomogeneity and localization of lung disease.</p><p><strong>Methods: </strong>This retrospective cross-sectional study included pwCF and pwPCD aged 6-20 years with available MBW and spirometry data (2011-2024).</p><p><strong>Results: </strong>PwCF (n23, median age 14.4 y) had similar FEV₁ z-scores compared to 23 pwPCD (median age 14.4 y) (-0.1 vs. -1.1, p: 0.33). LCI values were more abnormal in the CF group compared to the PCD group (7.8 vs. 7.1; p: 0.04). FEF_25-75%pred and phase III slope parameters were not significantly different, though a trend toward higher S_cond x VT in CF was noted (0.08 vs. 0.06; p: 0.11).</p><p><strong>Conclusion: </strong>Despite similar FEV₁ abnormalities, reflecting proximal airway impairment, pwCF exhibit greater peripheral airway involvement than pwPCD, as indicated by higher LCI values.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"61 8","pages":"e71735"},"PeriodicalIF":2.4,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13403291/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148592885","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of Elexacaftor/Tezacaftor/Ivacaftor on Systemic Antibiotic Utilization in Pediatric Patients With Cystic Fibrosis.","authors":"Julianne Fava, Emily Stephan, Jessica Tansmore, Shahid Sheikh, Mariah Eisner, Kimberly J Novak","doi":"10.1002/ppul.71749","DOIUrl":"10.1002/ppul.71749","url":null,"abstract":"<p><strong>Introduction: </strong>Cystic fibrosis (CF) is an autosomal recessive disease resulting from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Recurrent respiratory infections are a common problem, and patients receive frequent antibiotics. Treatment of CF involves both symptomatic and underlying disease-targeting therapies. Elexacaftor/tezacaftor/ivacaftor (ETI), a disease-targeting therapy, combines two correctors and a potentiator to increase functioning of the CFTR channel. With better functioning channels, symptomatic improvement is expected in the form of decreased respiratory infections.</p><p><strong>Objective: </strong>To evaluate the change in antibiotic use following the initiation of ETI therapy in pediatric patients.</p><p><strong>Methods: </strong>This is a single-center, retrospective chart review conducted at Nationwide Children's Hospital (NCH) in Columbus, Ohio. Patients served as self-controls, compared before and after initiating ETI. The primary outcome was change in antibiotic days per patient-year. Secondary outcomes included change in use of specific antibiotics, enteral versus intravenous (IV) therapy, and different classes of antibiotics. The study was approved by the NCH institutional review board (IRB).</p><p><strong>Results: </strong>The study included 139 patients aged 6-18 years. The median antibiotic days per patient-year was 17 days pre-ETI and 6 days post-ETI (p < 0.001). There was a significant decrease in antibiotic days per patient-year for subgroups of IV antibiotics, enteral antibiotics, IV vancomycin, linezolid and tedizolid, anti-methicillin-resistant Staphylococcus aureus (MRSA) tetracyclines, other anti-MRSA medications (clindamycin and trimethoprim/sulfamethoxazole), aminoglycosides, anti-Pseudomonas aeruginosa (Psae) beta-lactams, and fluoroquinolones. There was no significant difference for carbapenems or non-anti-Psae beta-lactams.</p><p><strong>Conclusion: </strong>ETI therapy was associated with decreased antibiotic days for many therapeutic classes of both enteral and IV antibiotics.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"61 8","pages":"e71749"},"PeriodicalIF":2.4,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13411607/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148606303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Respiratory Physiotherapy for Chest Wall Deformity in an Infant With Neuroendocrine Cell Hyperplasia of Infancy.","authors":"Agata Jurkiewicz, Honorata Marczak, Agnieszka Strzelak","doi":"10.1002/ppul.71789","DOIUrl":"10.1002/ppul.71789","url":null,"abstract":"","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"61 8","pages":"e71789"},"PeriodicalIF":2.4,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13462818/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148712436","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Systematic Reanalysis of Whole-Exome Sequencing in Genetically Unsolved Pediatric Primary Ciliary Dyskinesia.","authors":"Tilbe Hakçıl Öz, Tuğba Şişmanlar Eyüboğlu, Ayşe Tana Aslan, Nilgün Kula, Gülsüm Kayhan","doi":"10.1002/ppul.71776","DOIUrl":"10.1002/ppul.71776","url":null,"abstract":"<p><strong>Background: </strong>Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder, and despite advances in next-generation sequencing, a substantial proportion of clinically suspected pediatric cases remain without a molecular diagnosis. This persistent diagnostic gap reflects limitations of earlier analysis pipelines and incomplete knowledge of PCD-related genes. Reanalysis of existing whole-exome sequencing (WES) data using updated resources has become a practical strategy to improve diagnostic yield in pediatric populations.</p><p><strong>Methods: </strong>We retrospectively reanalyzed WES data from 34 Turkish pediatric patients with clinical suspicion of PCD evaluated at a tertiary center between 2019 and 2023, all of whom had previously nondiagnostic genetic results. Reanalysis incorporated updated population and disease databases, curated ciliary gene resources, phenotype-driven variant interpretation, and copy number variant (CNV) assessment.</p><p><strong>Results: </strong>Molecular diagnoses were established in 3 of 34 patients (8.8%) through variants in known PCD genes, demonstrating the incremental value of systematic reanalysis enabled by detection of previously missed CNVs and updated literature evidence. In addition, rare variants in biologically plausible candidate genes were prioritized in 8 cases (23.5%), including genes involved in ciliary structure (RIBC1, NINL, DNAH14, SPMIP2), host defense pathways (USHBP1, CRYBG1, TRIM34), and laterality determination (WDR90).</p><p><strong>Conclusion: </strong>Systematic WES reanalysis can identify missed molecular diagnoses and prioritize biologically relevant candidate genes in unresolved pediatric PCD cases, supporting future gene discovery and refinement of the genetic architecture of PCD, particularly in populations with high rates of consanguinity.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"61 8","pages":"e71776"},"PeriodicalIF":2.4,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13448407/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148685519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Human Nasal and Bronchial Epithelium in Cystic Fibrosis: Differences in Expression of Airway pH Regulatory Proteins.","authors":"Michael D Davis, Laura Smith, Yi Zhao, Rania Abdul Rahman, Faiza Khalid, James Chmiel, Katie Boyne, Ivana A Daniels, Benjamin Gaston, Nadzeya Marozkina","doi":"10.1002/ppul.71784","DOIUrl":"10.1002/ppul.71784","url":null,"abstract":"<p><strong>Background: </strong>Decreased apical bicarbonate transport into the airway surface liquid (ASL) has been associated with decreased ASL pH, which can have adverse respiratory effects. However, the human CF epithelium can normalize ASL pH. Thus, we hypothesized that pH regulatory proteins other than the CFTR could be altered in the CF epithelium.</p><p><strong>Methods: </strong>Primary human nasal and bronchial epithelial cells from healthy controls and CF subjects were grown at air-liquid interface until fully ciliated. Western blot was used to measure proteins known to affect human epithelial pH: carbonic anhydrases (CA) 1, 2, and 12; voltage-gated proton channel (Hv1); lactate dehydrogenases (LDH) A, B, D; dual oxidases (DUOX) 1, 2; Na⁺/H⁺ exchange regulatory factor; potassium-transporting ATPase alpha chain 2 (ATP12A), S-nitrosoglutathione reductase (GSNOR); glutaminase; vacuolar-type ATPase (VTP-ase); and NADPH oxidases (NOX) 1-4.</p><p><strong>Results: </strong>NOX2 was decreased in CF nasal epithelial cells compared to controls. CA1, CA2, CA12, Hv1, LDHA, LDHD, ATP12A, GSNOR and NOX4 expression were increased in CF bronchial epithelial cells relative to the controls. Beta actin expression was variable, making normalization challenging.</p><p><strong>Conclusions: </strong>Expression of CA's, Hv1, LDH's, ATP12A, GSNOR, and NOX4 were generally increased in bronchial epithelium from patients with CF. These proteins could serve to normalize the CF epithelial pH. Nasal cells did not have these changes, arguing that findings from primary nasal cells in culture cannot uniformly be extrapolated to understand the biology of primary bronchial epithelial cells in culture.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"61 8","pages":"e71784"},"PeriodicalIF":2.4,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13470140/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148726080","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Population Pharmacokinetic and Exposure-Response Analysis of Vancomycin Nephrotoxicity in Cystic Fibrosis Patients.","authors":"Jessica Barry, J G C van Hasselt, Michael Evans, Elizabeth B Hirsch, Jordan Dunitz, Sarah Shockley, Joanne Billings, Sílvia M Illamola","doi":"10.1002/ppul.71748","DOIUrl":"10.1002/ppul.71748","url":null,"abstract":"<p><strong>Introduction: </strong>Acute pulmonary exacerbations (APE) in persons with cystic fibrosis (PwCF) are associated with a reduction in long-term pulmonary function. Vancomycin is recommended as first-line treatment of methicillin-resistant Staphylococcus aureus -APE in PwCF. While vancomycin poses a significant risk of nephrotoxicity, the relationship between vancomycin exposure and nephrotoxicity in PwCF has not been characterized.</p><p><strong>Aims: </strong>We aimed to establish the relationship between vancomycin exposure and onset of nephrotoxicity in PwCF, and to identify predictors of nephrotoxicity.</p><p><strong>Methods: </strong>This was a retrospective study among 52 adults PwCF. Nephrotoxicity events were defined based on the RIFLE criteria, as a serum creatinine increase of 1.5 times from baseline or a ≥ 25% decrease in glomerular filtration rate. A population pharmacokinetic (popPK) model was used to derive exposure measures (i.e., area-under the concentration-time curve (AUC)).</p><p><strong>Results: </strong>A total of 590 vancomycin serum concentrations were available for analysis. A one-compartment model best describes vancomycin pharmacokinetics. Creatinine clearance was included as a significant covariate in the clearance. The popPK model allowed quantification of cumulative AUC (AUC_cum) and AUC₂₄ values, and AUC normalized (AUC_norm) and cumulative dose were further calculated. Each variable of interest was used to fit a generalized linear mixed-effects (GLM) model. The GLM model identified AUC_cum as a significant predictor of vancomycin nephrotoxicity (p < 0.01). Additionally, patients with more than one dosing occasion were significantly more likely to experience nephrotoxicity (p < 0.01). Based on the final AUC_cum model, the odds of experiencing a nephrotoxicity event increased by 32.6% (95% CI: 11.0%-58.4%) for each doubling of AUC_cum.</p><p><strong>Discussion: </strong>Our results demonstrate an association between increased vancomycin exposures and risk of nephrotoxicity. This study provides a foundation for optimizing personalized vancomycin dosing strategies in PwCF to balance efficacy and nephrotoxicity risk.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"61 8","pages":"e71748"},"PeriodicalIF":2.4,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13406165/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148606219","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Endoscopic Trichloroacetic Acid Chemocauterization for Recurrent Tracheoesophageal Fistula: A Single-Center Retrospective Cohort Study.","authors":"Loraine Fabri, Victoria Nibelle, Laurence Hanssens, Nicolas Lefèvre","doi":"10.1002/ppul.71758","DOIUrl":"10.1002/ppul.71758","url":null,"abstract":"<p><strong>Background: </strong>Tracheoesophageal fistula (TEF) is a rare congenital anomaly commonly associated with esophageal atresia (EA-TEF). Management involves early surgical repair. TEF recurrence is not rare and repeat surgery carries significant complication risks. Endoscopic treatment is an alternative to iterative surgery. This retrospective case series describes the diagnosis, management, and outcomes of children treated with endoscopic chemocauterization for RTEF after EA-TEF surgical repair (RTEF) or isolated congenital TEF in our center.</p><p><strong>Methods: </strong>We reviewed the charts of all patients who underwent endoscopic treatment for TEF at a single pediatric tertiary center from 2016 to 2023. Patients were divided into three groups: isolated congenital TEF, medium-sized or large recurrent RTEF. Chemocauterization was performed via rigid bronchoscopy by applying a trichloroacetic acid (TCA)-soaked cotton swab to the fistula. Postoperative follow-up included clinical assessment and bronchoscopy as indicated by clinical evolution.</p><p><strong>Results: </strong>Chemocauterization was performed on 13 patients following diagnosis of RTEF. A single chemocauterization procedure was sufficient for 12 patients, while three procedures were required for one patient. This patient developed aspiration pneumonia 1 month after his initial chemocauterization. No complications were observed in other patients. One patient was diagnosed with an isolated congenital TEF and benefited from endoscopic treatment as the primary approach, with a successful single procedure.</p><p><strong>Conclusion: </strong>Endoscopic chemocauterization using TCA appears to be a safe and effective technique for managing RTEF. This study also presents a successful first-line endoscopic treatment of an isolated congenital TEF using chemocauterization. Further studies are needed to compare its effectiveness with surgery.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"61 8","pages":"e71758"},"PeriodicalIF":2.4,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13402914/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148592967","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ventilatory Response to CO₂ During Exercise in Patients With Congenital Central Hypoventilation Syndrome.","authors":"Kenta Ikeda, Hisaya Hasegawa, Yosuke Yamada, Masanori Wasa, Shoichiro Kanabuchi","doi":"10.1002/ppul.71767","DOIUrl":"10.1002/ppul.71767","url":null,"abstract":"<p><strong>Background: </strong>Congenital central hypoventilation syndrome (CCHS) is characterized by a markedly impaired ventilatory response to CO₂ due to central chemoreceptor dysfunction. Although inadequate ventilation and hypercapnia during exercise have been reported, ventilatory response during exercise has not been quantitatively evaluated in CCHS. This study aimed to quantify ventilatory response during exercise and compare it with that at rest.</p><p><strong>Methods: </strong>Ten patients with genetically confirmed CCHS underwent cardiopulmonary exercise test (CPET) using a stepwise incremental treadmill protocol with breath-by-breath respiratory gas analysis. CPET was terminated when end-tidal CO₂ (EtCO₂) increased by at least 2% (15.2 mmHg) from baseline. Ventilatory response to CO₂ (VRCO₂) was calculated as Δminute volume (MV)/ΔEtCO₂/body weight (mL/min/mmHg/kg). VRCO₂ at rest was measured using the CO₂ rebreathing method. Data are presented as median (interquartile range [IQR]).</p><p><strong>Results: </strong>Age was 13.5 (12.3-15.5) years, and exercise duration was 5 min 53 s (4 min 47 s-6 min 56 s). Although MV increased during exercise, SpO₂ decreased and EtCO₂ increased, indicating hypoventilation. VRCO₂ during exercise was 2.27 (1.61-3.16), not significantly different from VRCO₂ at rest, 1.56 (1.07-2.83) (p = 0.85). VRCO₂ was markedly lower than values in healthy children (34.6 (29.3-42.8)). No patients reported dyspnea, and no serious adverse events occurred.</p><p><strong>Conclusions: </strong>VRCO₂ during exercise remains profoundly low in CCHS. No significant difference from VRCO₂ at rest was detected, suggesting persistent impairment of CO₂-driven ventilatory control despite increased metabolic demand. These findings provide insight into exercise-related hypoventilation in CCHS and underscore the importance of objective physiological assessment to support cautious and individualized clinical judgment rather than subjective symptoms.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"61 8","pages":"e71767"},"PeriodicalIF":2.4,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13422129/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148620976","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}