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Best Practice in Health Care pp 79–85Cite as

Changes of Motile Ciliary Phenotype in Patients with Primary Ciliopathies

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Part of the book series: Advances in Experimental Medicine and Biology ((CLEXBI,volume 1335))

Abstract

Primary ciliopathies are a group of disorders associated with abnormal formation and function of primary cilia. Many cilia-associated proteins found in primary cilia are also present in motile cilia. Such proteins are important for the ciliary base, such as the transition zone or basal bodies, and the intraflagellar transport. Their exact role in the respiratory motile cilia is unsettled. In this prospective clinical single-center study, we investigated the hypothesis that these proteins regulate the function of motile cilia. We addressed the issue by defining the motile cilia beat frequency in the respiratory tract of patients with primary ciliopathies accompanied by chronic kidney disease and comparing it in those without kidney involvement. Ciliary beat frequency in the nasal mucosa samples was evaluated by the ciliary analysis software LabVIEW. Both children and their parents with primary ciliopathies and kidney involvement had significantly lower median airway ciliary beat frequencies than those without kidney involvement who have normal ciliary motility. Further, the ciliary beat frequency is inversely associated with the serum creatinine level. These findings strongly suggest that kidney involvement in patients with primary ciliopathy may underlie the development of motile cilia dysfunction in the respiratory tract, potentially increasing respiratory morbidity.

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Conflicts of Interest

The authors declare no conflicts of interest in relation to this study.

Ethical Approval

All procedures performed in studies involving human participants were in accord with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed Consent

Informed consent was obtained from all individual participants included in the study.

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Authors and Affiliations

  1. Department of Pediatrics, Jessenius Faculty of Medicine and University Hospital, Comenius University in Bratislava, Martin, Slovakia

    Miroslava Brndiarova, Julia Kvassayova, Jarmila Vojtkova & Matus Igaz

  2. Department of Pathophysiology, Jessenius Faculty of Medicine, Comenius University in Bratislava, Martin, Slovakia

    Tomas Buday & Jana Plevkova

Authors
  1. Miroslava Brndiarova
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  2. Julia Kvassayova
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  3. Jarmila Vojtkova
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  4. Matus Igaz
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  5. Tomas Buday
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  6. Jana Plevkova
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Corresponding author

Correspondence to Miroslava Brndiarova .

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Editors and Affiliations

  1. The Jan Dlugosz University, Częstochowa, Poland

    Mieczyslaw Pokorski

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Brndiarova, M., Kvassayova, J., Vojtkova, J., Igaz, M., Buday, T., Plevkova, J. (2021). Changes of Motile Ciliary Phenotype in Patients with Primary Ciliopathies. In: Pokorski, M. (eds) Best Practice in Health Care. Advances in Experimental Medicine and Biology(), vol 1335. Springer, Cham. https://doi.org/10.1007/5584_2021_617

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