Diagnostic testing in people with primary ciliary dyskinesia: An international participatory study.

Autor:	Schreck LD; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.; Graduate School for Health Sciences, University of Bern, Bern, Switzerland., Pedersen ESL; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland., Cizeau I; Association Dyskinésie Ciliaire Primitive, Saint-Étienne, France., Müller L; Department for BioMedical Research, University of Bern, Bern, Switzerland.; Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, University Hospital, Bern, Switzerland., Kruljac C; PCD Australia Primary Ciliary Dyskinesia, Altona Victoria, Australia., Lucas JS; Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.; University of Southampton Faculty of Medicine, School of Clinical and Experimental Medicine, Southampton, United Kingdom., Goutaki M; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.; Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, University Hospital, Bern, Switzerland., Kuehni CE; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.; Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, University Hospital, Bern, Switzerland.
Jazyk:	angličtina
Zdroj:	PLOS global public health [PLOS Glob Public Health] 2023 Sep 11; Vol. 3 (9), pp. e0001522. Date of Electronic Publication: 2023 Sep 11 (Print Publication: 2023).
DOI:	10.1371/journal.pgph.0001522
Abstrakt:	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. Competing Interests: The authors have declared that no competing interests exist. (Copyright: © 2023 Schreck et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)
Databáze:	MEDLINE
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