ArticleOrphanet journal of rare diseases2014
Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.
Article in Orphanet journal of rare diseases, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 4 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
53 citing papers in PubMed, 4 syntheses or guidelines pooled it, 129 citations in OpenAlex.
- European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia.The European respiratory journal · 2025Guideline
- 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
- A comparative analysis of fetal mirror-image dextrocardia in China pre- and post-COVID-19 lockdown lifting.BMC pregnancy and childbirth · 2026Article
- Comparison of spirometry, impulse oscillometry, and multiple breath washout in children with primary ciliary dyskinesia.Frontiers in pediatrics · 2026Article
- Case report: novelFrontiers in genetics · 2026Article
- Article
- Machine Learning Analysis of Cilia-Driven Particle Transport Distinguishes Primary Ciliary Dyskinesia Cilia from Normal Cilia.bioRxiv : the preprint server for biology · 2025Article
- An indigenous method of high-speed video microscopy for diagnosis of primary ciliary dyskinesia in children.World journal of pediatrics : WJP · 2025Article
- Clinical Manifestations and Genotype of Primary Ciliary Dyskinesia Diagnosed in Korea: Multicenter Study.Allergy, asthma & immunology research · 2023Article
- Ear and upper airway clinical outcome measures for use in primary ciliary dyskinesia research: a scoping review.European respiratory review : an official journal of the European Respiratory Society · 2023Article
- Article
- Incidence and Severity of SARS-CoV-2 Infections in People With Primary Ciliary Dyskinesia.International journal of public health · 2023Article
- Cross-sectional evaluation of the saccharin transit time test for primary ciliary dyskinesia: did we discard this tool too soon?Sao Paulo medical journal = Revista paulista de medicina · 2023Observational
- Article
- INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.Nature communications · 2022Article
- Observational
- Chronic airway disease in primary ciliary dyskinesia-spiced with geno-phenotype associations.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- COVID-19 Vaccinations: Perceptions and Behaviours in People with Primary Ciliary Dyskinesia.Vaccines · 2021Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary ciliary dyskinesia (PCD) is a rare disorder with variable disease progression. To date, mutations in more than 20 different genes have been found. At present, PCD subtypes are described according to the ultrastructural defect on transmission electron microscopy (TEM) of the motile cilia. PCD with normal ultrastructure (NU) is rarely reported because it requires additional testing. Biallelic mutations in DNAH11 have been described as one cause of PCD with NU.The aim of our study was to describe the clinical characteristics of a large population of patients with PCD, in relation to the ultrastructural defect. Additionally, we aimed to demonstrate the need for biopsy and cell culture to reliably diagnose PCD, especially the NU subtype.
methodsWe retrospectively analyzed data from 206 patients with PCD. We compared the clinical characteristics, lung function, microbiology and imaging results of 68 patients with PCD and NU to those of 90 patients with dynein deficiencies and 41 patients with central pair abnormalities. In addition, we aimed to demonstrate the robustness of the diagnosis of the NU subtype in cell culture by data from genetic analysis.
resultsPCD with NU comprised 33% (68/206) of all patients with PCD. Compared to other subtypes, patients with PCD and NU had a similar frequency of upper and lower respiratory tract problems, as well as similar lung function and imaging. With the currently widely applied approach, without cell culture, the diagnosis would have been missed in 16% (11/68) of patients with NU. Genetic analysis was performed in 29/68 patients with PCD and NU, and biallelic mutations were found in 79% (23/29) of tested patients.
conclusionsWe reported on the clinical characteristics of a large population of patients with PCD and NU. We have shown that systematic performance of biopsy and cell culture increases sensitivity to detect PCD, especially the subtype with NU.PCD with NU has similar clinical characteristics as other PCD types and requires biopsy plus ciliogenesis in culture for optimal diagnostic yield.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.