ArticlePLOS global public health2023
Diagnostic testing in people with primary ciliary dyskinesia: An international participatory study.
Article in PLOS global public health, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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The trial behind it
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- Incidence and predictors of self-reported pulmonary exacerbations in primary ciliary dyskinesia: an international prospective cohort study.ERJ open research · 2026Article
- Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis.Molecular diagnosis & therapy · 2025Article
- Diagnostic Role of Immunofluorescence Analysis in Primary Ciliary Dyskinesia-Suspected Individuals.Journal of clinical medicine · 2025Article
- Priorities and barriers for research related to primary ciliary dyskinesia.ERJ open research · 2024Article
- Primary Ciliary Dyskinesia: A Clinical Review.Cells · 2024Review
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Diagnostic tests are important in primary ciliary dyskinesia (PCD), a rare disease, to confirm the diagnosis and characterize the disease. We compared diagnostic tests for PCD between countries worldwide, assessed whether people with PCD recall their tests, and identified factors associated with the use of tests. We used cross-sectional data from COVID-PCD-an international participatory cohort study collecting information directly from people with PCD. The baseline questionnaire inquired about tests used for PCD diagnosis. Using logistic regression, we investigated factors associated with measurement of nasal nitric oxide (nNO), biopsy for electron or video microscopy, and genetic testing. We included data from 747 participants (60% females) from 49 countries worldwide with median age 27 (interquartile range 12-44). Most (92%) reported diagnostic tests for PCD. Participants reported measurements of nNO (342; 49%), biopsy samples (561; 75%), and genetic tests (435; 58%). The reported use of individual tests, such as genetics, varied between countries from 38% in Switzerland to 68% in North America. Participant recall of test type also differed between countries with lowest recall in Switzerland. One-third (232; 36%) of participants reported all three tests (nNO, biopsy, and genetics). Recently diagnosed people reported more tests [nNO odds ratio (OR) 2.2, 95% Confidence Interval (CI) 1.5-3.2; biopsy OR 3.2, 95%CI 2.1-4.9; genetics OR 4.7, 95%CI 3.2-6.9] and those with situs abnormalities fewer tests (nNO OR 0.5, 95%CI 0.4-0.7; biopsy OR 0.5, 95%CI 0.4-0.8; genetics OR 0.7, 95%CI 0.5-0.94). Our results indicate PCD diagnostic testing differed widely around the world and many patients received incomplete diagnostic work-up based only on clinical features or single tests. People diagnosed long ago and those with situs abnormalities possibly benefit from supplementary testing to refine their diagnosis as a prerequisite for personalized medicine.
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Registered trials
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