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Review
. 2025 May;25(3):100319.
doi: 10.1016/j.clinme.2025.100319. Epub 2025 Apr 30.

Primary ciliary dyskinesia: Aetiology, diagnosis and clinical management

Rachael Collison  1 , Saara A Hyatali  2 , Antoniya Kamenova  3 , Adam Rashed  4 , Dylan Riley  5 , Kartik Kumar  6 , Janet M Stowell  7 , Michael R Loebinger  8
Affiliations
Review

Primary ciliary dyskinesia: Aetiology, diagnosis and clinical management

Rachael Collison et al. Clin Med (Lond). 2025 May.

Abstract

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by abnormal function of motile cilia. The condition usually manifests in early life with neonatal distress, chronic sinopulmonary disease and organ laterality disorders. In adults, it is an underdiagnosed cause of bronchiectasis as well as subfertility. This review provides an overview of PCD for clinicians. We discuss its aetiology, its presentation, how it is diagnosed and its multidisciplinary clinical management.

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Conflict of interest statement

Declaration of competing interests The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Co-author is an associate editor and editorial board member of Clinical Medicine - KK. Co-author declares consulting fees from Armata, 30T, Astra Zeneca, Parion, Insmed, Chiesi, Zambon, Electromed, Recode, Boehringer Ingelheim, Ethris, Mannkind, AN2 Therapeutics; and payment or honoraria for lectures, presentations, speakers bureaus, manuscript writing or educational events from Insmed - MRL. If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Figures

Fig 1
Fig. 1
A chest radiograph showing dextrocardia with situs invertus totalis in an individual with PCD.
Fig 2
Fig. 2
A coronal section of a high-resolution chest CT scan demonstrating bronchiectasis and dextrocardia with situs invertus totalis in an individual with PCD.
Fig 3
Fig. 3
An axial section of a high-resolution chest CT scan demonstrating bronchiectasis and dextrocardia in an individual with PCD.
See this image and copyright information in PMC

References

    1. Hannah W.B., Seifert B.A., Truty R., et al. The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis. Lancet Respir Med. 2022;10(5):459–468. - PMC - PubMed
    1. Walker W.T., Jackson C.L., Lackie P.M., Hogg C., Lucas JS. Nitric oxide in primary ciliary dyskinesia. Eur Respir J. 2012;40(4):1024–1032. - PubMed
    1. O'Callaghan C., Chetcuti P., Moya E. High prevalence of primary ciliary dyskinesia in a British Asian population. Arch Dis Child. 2010;95(1):51–52. - PubMed
    1. Mitchison H.M., Valente EM. Motile and non-motile cilia in human pathology: from function to phenotypes. J Pathol. 2017;241(2):294–309. - PubMed
    1. Horani A., Ferkol T.W., Dutcher S.K., Brody SL. Genetics and biology of primary ciliary dyskinesia. Paediatr Respir Rev. 2016;18:18–24. - PMC - PubMed

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