Evidence map›Paper›PMID 42860806›Full record

ArticlePediatric pulmonology2026

Making the Diagnosis of Primary Ciliary Dyskinesia in Australia.

Michelle Cai, Megan Frohlich, Louisa Owens, Kate Hardaker, Dominic A Fitzgerald, Raewyn Campbell, Bernadette Prentice, Lucy Morgan

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Pediatric pulmonology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Michelle CaiDiscipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, Sydney, NSW, Australia.ORCID https://orcid.org/0009-0004-0404-661X
Megan FrohlichDiscipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, Sydney, NSW, Australia.
Louisa OwensDiscipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, Sydney, NSW, Australia.
Kate HardakerDepartment of Thoracic Medicine, Concord Repatriation General Hospital, Sydney, NSW, Australia.ORCID https://orcid.org/0009-0006-9792-6636
Dominic A FitzgeraldDepartment of Respiratory Medicine, The Children's Hospital at Westmead, Sydney, NSW, Australia.ORCID https://orcid.org/0000-0001-8181-9648
Raewyn CampbellMacquarie University Hospital, Sydney, NSW, Australia.ORCID https://orcid.org/0000-0002-6512-3613
Bernadette PrenticeDiscipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, Sydney, NSW, Australia.ORCID https://orcid.org/0000-0002-8600-1009
Lucy MorganDepartment of Thoracic Medicine, Concord Repatriation General Hospital, Sydney, NSW, Australia.

Funding

Sydney Children's Hospitals FoundationSydney Children's Hospitals Network Kids Research Clinician Researcher fellowship
6 · The paper itself

Abstract

BACKGROUND AND

objectivePrimary Ciliary Dyskinesia (PCD) is a genetic disorder associated with recurrent infections and irreversible airway damage. No single diagnostic test exists, necessitating use of a diagnostic algorithm that varies internationally. This retrospective study aimed to describe the clinical characteristics of patients, and algorithm used to diagnose PCD in New South Wales between 2014 and 2024.

methodsA retrospective review of patients diagnosed with PCD at Concord Repatriation General Hospital (CRGH) from 2014 to 2024 was performed.

resultsThis study included 52 patients with median age of diagnosis 7.0 years. The diagnostic algorithm consists of nasal nitric oxide (nNO) in patients > 5 years, and nasal brushings for high-speed video microscopy (HSVMA), immunofluorescence (IF) and electron microscopy (EM). Whole exome sequencing is not routine and was performed in 33% of the cohort. The diagnosis was confirmed by a multidisciplinary team that considered the test results and clinical phenotype. Non-diagnostic results occurred in 14% (nNO), 15% (HSVMA), 41% (IF) and 30% (EM) of patients eventually diagnosed with PCD or PCD "highly likely". Cumulatively, 56% of patients had at least one non-diagnostic result. Of the 17 patients who underwent whole exome sequencing with a PCD panel, 41% had diagnostic genetic results.

conclusionCiliary studies continue to be the mainstay of PCD diagnosis at CRGH. Although genetic testing is not part of the CRGH diagnostic algorithm, the CRGH algorithm has similar diagnostic performance to the ERS and ATS guidelines.

Indexed as

Kartagener SyndromeAdolescentAlgorithmsChildChild, PreschoolFemaleHumansInfantMaleMicroscopy, ElectronMicroscopy, VideoNew South WalesNitric OxideRetrospective StudiesNitric OxideAustraliaciliadiagnosisprimary ciliary dyskinesia

Identifiers

PMID42860806
PMCPMC13655486

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Registered trials

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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.