ArticleAmerican journal of respiratory and critical care medicine2015
Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype.
Article in American journal of respiratory and critical care medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 138 papers, 7 of them syntheses that pooled it.
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Who cites it
138 citing papers in PubMed, 7 syntheses or guidelines pooled it.
- Nutrition and growth of primary ciliary dyskinesia patients: a systematic review.European respiratory review : an official journal of the European Respiratory Society · 2026Pooled it
- Multiple breath washout in primary ciliary dyskinesia: a systematic review of the literature.European respiratory review : an official journal of the European Respiratory Society · 2025Pooled it
- Primary ciliary dyskinesia in Japan: systematic review and meta-analysis.BMC pulmonary medicine · 2019Pooled it
- Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline.American journal of respiratory and critical care medicine · 2018Pooled it
- Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis.Pediatric research · 2017Pooled it
- European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.The European respiratory journal · 2017Guideline
- Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review.Pediatric pulmonology · 2016Guideline
- Nasal nitric oxide combined with clinical features for preliminary screening of primary ciliary dyskinesia in bronchiectasis.The European respiratory journal · 2026Article
- Early Structural Lung Changes in Primary Ciliary Dyskinesia (PCD).Pediatric pulmonology · 2026Article
- Nontuberculous Mycobacteria in Primary Ciliary Dyskinesia: A National Multicenter Cohort Study.Respiration; international review of thoracic diseases · 2026Article
- Structural lung assessment in children with primary ciliary dyskinesia: evaluation with the SPEC scoring system.European journal of pediatrics · 2026Article
- The Genetics of Primary Ciliary Dyskinesia - Advances and Limitations.Pediatric pulmonology · 2026Review
- Mucociliary and cough clearance in primary ciliary dyskinesia as affected by mutations inERJ open research · 2026Article
- Comparison of spirometry, impulse oscillometry, and multiple breath washout in children with primary ciliary dyskinesia.Frontiers in pediatrics · 2026Article
- CCDC39 Mutation-Related Primary Ciliary Dyskinesia with Congenitally Corrected Transposition of the Great Arteries: A Case Report.The American journal of case reports · 2025Article
- Article
- The Association of Neonatal Respiratory Distress With Ciliary Ultrastructure and Genotype in Primary Ciliary Dyskinesia.Pediatric pulmonology · 2025Article
- Age-related cerebral ventriculomegaly occurs in patients with primary ciliary dyskinesia.Fluids and barriers of the CNS · 2025Article
- Undocking of an extensive ciliary network induces proteostasis and cell fate switching resulting in severe primary ciliary dyskinesia.Science translational medicine · 2025Article
- Beyond the present: current and future perspectives on the role of infections in pediatric PCD.Frontiers in pediatrics · 2025Review
78 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
16 authors.
Funding
Abstract
rationaleThe relationship between clinical phenotype of childhood primary ciliary dyskinesia (PCD) and ultrastructural defects and genotype is poorly defined.
objectivesTo delineate clinical features of childhood PCD and their associations with ultrastructural defects and genotype.
methodsA total of 118 participants younger than 19 years old with PCD were evaluated prospectively at six centers in North America using standardized procedures for diagnostic testing, spirometry, chest computed tomography, respiratory cultures, and clinical phenotyping. MEASUREMENTS AND MAIN
resultsClinical features included neonatal respiratory distress (82%), chronic cough (99%), and chronic nasal congestion (97%). There were no differences in clinical features or respiratory pathogens in subjects with outer dynein arm (ODA) defects (ODA alone; n = 54) and ODA plus inner dynein arm (IDA) defects (ODA + IDA; n = 18) versus subjects with IDA and central apparatus defects with microtubular disorganization (IDA/CA/MTD; n = 40). Median FEV1 was worse in the IDA/CA/MTD group (72% predicted) versus the combined ODA groups (92% predicted; P = 0.003). Median body mass index was lower in the IDA/CA/MTD group (46th percentile) versus the ODA groups (70th percentile; P = 0.003). For all 118 subjects, median number of lobes with bronchiectasis was three and alveolar consolidation was two. However, the 5- to 11-year-old IDA/CA/MTD group had more lobes of bronchiectasis (median, 5; P = 0.0008) and consolidation (median, 3; P = 0.0001) compared with the ODA groups (median, 3 and 2, respectively). Similar findings were observed when limited to participants with biallelic mutations.
conclusionsLung disease was heterogeneous across all ultrastructural and genotype groups, but worse in those with IDA/CA/MTD ultrastructural defects, most of whom had biallelic mutations in CCDC39 or CCDC40.
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