Primary ciliary dyskinesia in dogs – clinical and therapeutic aspects
Review
DOI:
https://doi.org/10.31533/pubvet.v20n7e1984Keywords:
Dogs, Kartagener syndrome, ciliary structure, situs inversusAbstract
Primary ciliary dyskinesia (PCD) is a rare hereditary disorder that primarily affects purebred dogs, in which repeated breeding may favor the transmission of pathogenic genetic variants. These genetic alterations cause structural and functional defects in cilia, impairing the mucociliary clearance system responsible for removing secretions and pathogens from the respiratory tract. Consequently, affected animals may present recurrent clinical signs, such as rhinosinusitis, coughing, sneezing, pneumonia, and bronchopneumonia, often with a limited response to conventional therapies. The disease may present with a clinical manifestation known as Kartagener syndrome, characterized by bronchiectasis, rhinosinusitis, and situs inversus, a condition in which the thoracic and abdominal organs are positioned on the opposite side from their normal anatomical location. In addition to respiratory abnormalities, both males and females may exhibit infertility due to structural and functional impairment of cilia. Diagnosis is challenging because there is no single definitive diagnostic method; therefore, a combination of diagnostic approaches is required, including assessment of ciliary ultrastructure by electron microscopy and complementary examinations. As this is a genetic disorder for which no definitive cure has been established, treatment is primarily based on supportive therapy and symptomatic management, aiming to improve the quality of life and well-being of affected animals.
References
Aguiar, B. C. M., Nogueira, G. F., Matoso, I. S. V., Teodoro, I. M. P., & Maschtakow, T. I. M. (2022). Discinesia ciliar primária. Studies in Health Sciences, 3(2). https://doi.org/10.54022/shsv3n2-032.
Aguillo, L. C., Ortega, C. S., & González, N. M. (2025). Discinesia ciliar primeri y brocoquiectasias: Evolutión clínican y manejo multidisciplinar. Revista Sanitaria de Investigación, VI(11). https://doi.org/10.34896/rsi.2025.73.70.001.
Anderegg, L., Gut, M. I. H., Hetzel, U., Howerth, E. W., Leuthard, F., Kyöstilä, K., Lohi, H., Pettitt, L., Mellersh, C., Minor, K. M., Mickelson, J. R., Batcher, K., Bannasch, D., Jagannathan, V., & Leeb, T. (2019). NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia. PLoS Genetics, 15(9), e1008378. https://doi.org/10.1371/journal.pgen.1008378.
Armengot, M. C., Roig, M. M., Payá, X. M., & Gimeno, J. (2010). Discinesia ciliar primaria. Ciliopatías. Acta Otorrinolaringológica Española, 61(2). https://doi.org/10.1016/j.otorri.2009.01.013.
Awasthi, S., & Mishra, S. (2025). Primary ciliary dyskinesia: A review. Rare, 3. https://doi.org/10.1016/j.rare.2025.100098.
Bell, E. T., Griffin, P., Martinello, P., & Robinson, P. (2016). Primary ciliary dyskinesia in two English Cocker Spaniels. Australian Veterinary Journal, 94(5), 149–153. https://doi.org/10.1111/avj.12418.
Braiman, A., & Priel, Z. (2008). Efficient mucociliary transport relies on efficient regulation of ciliary beating. Respiratory Physiology and Neurobiology, 163(1–3), 202–207. https://doi.org/10.1016/j.resp.2008.05.010.
Bustamante-Marin, X. M., & Ostrowski, L. E. (2017). Cilia and mucociliary clearance. Cold Spring Harbor Perspectives in Biology, 9(4), a028241. https://doi.org/10.1101/cshperspect.a028241.
Cho, K. J., Noh, S. H., Han, S. M., Choi, W. Il, Kim, H. Y., Yu, S., Lee, J. S., Rim, J. H., Lee, M. G., Hildebrandt, F., & Gee, H. Y. (2018). ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. PLoS Genetics, 14(3), 1007316. https://doi.org/10.1371/journal.pgen.1007316.
Christen, M., Ludwig-Peisker, O., Jagannathan, V., Hetzel, U., Schönball, U., & Leeb, T. (2023). STK36 splice site variant in an Australian Shepherd dog with primary ciliary dyskinesia. Animal Genetics, 54(3). https://doi.org/10.1111/age.13306.
Clercx, C., Peeters, D., Beths, T., McEntee, K., Votion, D., Snaps, F., Henroteaux, M., & Jorissen, M. (2000). Use of ciliogenesis in the diagnosis of primary ciliary dyskinesia in a dog. Journal of the American Veterinary Medical Association, 217(11). https://doi.org/10.2460/javma.2000.217.1681.
De Scally, M., Lobetti, R. G., & Van Wilpe, E. (2004). Primary ciliary dyskinesia in a Staffordshire bull terrier. Journal of the South African Veterinary Association, 75(3).
Despotes, K. A., Zariwala, M. A., Davis, S. D., & Ferkol, T. W. (2024). Primary Ciliary Dyskinesia: A Clinical Review. Cells, 13(11). https://doi.org/10.3390/cells13110974.
Edwards, D. F., Patton, C. S., & Kennedy, J. R. (1992). Primary ciliary dyskinesia in the dog. Problems in Veterinary Medicine, 4(2).
Ferrari, S. S., Rodríguez, L., Mejía, G., & Sánchez, J. (2024). Síndrome de Kartagener, reporte de caso. Revista Médica Hondureña, 92(2). https://doi.org/10.5377/rmh.v92i2.18813.
Fliegauf, M., Benzing, T., & Omran, H. (2007). When cilia go bad: Cilia defects and ciliopathies. Nature Reviews Molecular Cell Biology, 8(11), 880–893. https://doi.org/10.1038/nrm2278.
Gana, A. M. H. (2019). Diagnóstico de la discineia ciliar primaria. Neumología Pediátrica, 14(2). https://doi.org/10.51451/np.v14i2.94.
Gudis, D. A., & Cohen, N. A. (2010). Cilia dysfunction. Otolaryngologic Clinics of North America, 43(3), 461–472.
Horani, A., Brody, S. L., & Ferkol, T. W. (2014). Picking up speed: Advances in the genetics of primary ciliary dyskinesia. Pediatric Research, 75(1–2), 158–164. https://doi.org/10.1038/pr.2013.200.
Horani, A., Ferkol, T. W., Dutcher, S. K., & Brody, S. L. (2016). Genetics and biology of primary ciliary dyskinesia. In Paediatric Respiratory Reviews (Vol. 18, p. 18). https://doi.org/10.1016/j.prrv.2015.09.001,
Ishikawa, H., & Marshall, W. F. (2011). Ciliogenesis: Building the cell’s antenna. Nature Reviews Molecular Cell Biology, 12(4), 222–234. https://doi.org/10.1038/nrm3085.
Jung, R., Choi, J., Bae, H., Jung, D. I., Cho, K. O., & Yu, D. H. (2023). Siewert–Kartagener’s syndrome in a dog. Journal of Veterinary Science, 24(4). https://doi.org/10.4142/jvs.23029.
Junqueira, L. C., & Carneiro, J. C. (2013). Histologia Básica (12 ed.). Guanabara Koogan.
Kageyama, T., Ito, T., Tanaka, S., & Nakajima, H. (2024). Physiological and immunological barriers in the lung. Seminars in Immunopathology, 45(4–6). https://doi.org/10.1007/s00281-024-01003-y.
Kuek, L. E., & Lee, R. J. (2020). First contact: The role of respiratory cilia in host-pathogen interactions in the airways. American Journal of Physiology - Lung Cellular and Molecular Physiology, 319(4). https://doi.org/10.1152/AJPLUNG.00283.2020.
Laboklin. (2026). Primary ciliary dyskinesia (PCD) in dogs. In Alaskan Malamute, Australian Shepherd, Eurasian, Miniature American Shepherd, Nova Scotia Duck Tolling Retriever, Old English Sheepdog (Vol. 1, Number 1).
Laborie, É., Melchionna, S., & Sterpone, F. (2025). Cilia beating misalignment, immotility or death pathologically affect the efficiency of mucus-clearance. Communications Physics, 8(1). https://doi.org/10.1038/s42005-025-02030-3.
Lucas, J. S., Barbato, A., Collins, S. A., Goutaki, M., Behan, L., Caudri, D., Dell, S., Eber, E., Escudier, E., Hirst, R. A., Hogg, C., Jorissen, M., Latzin, P., Legendre, M., Leigh, M. W., Midulla, F., Nielsen, K. G., Omran, H., Papon, J. F., … Kuehni, C. E. (2017). European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. European Respiratory Journal, 49(1). https://doi.org/10.1183/13993003.01090-2016.
Merveille, A. C., Battaille, G., Billen, F., Deleuze, S., Fredholm, M., Thomas, A., Clercx, C., & Lequarré, A. S. (2014). Clinical findings and prevalence of the mutation associated with primary ciliary dyskinesia in old english sheepdogs. Journal of Veterinary Internal Medicine, 28(3), 771–778. https://doi.org/10.1111/jvim.12336.
Merveille, A. C., Davis, E. E., Becker-Heck, A., Legendre, M., Amirav, I., Bataille, G., Belmont, J., Beydon, N., Billen, F., Clément, A., Clercx, C., Coste, A., Crosbie, R., Blic, J., Deleuze, S., Duquesnoy, P., Escalier, D., Escudier, E., Fliegauf, M., … Amselem, S. (2011). CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nature Genetics, 43(1), 72–78. https://doi.org/10.1038/ng.726.
Miranda, I. C., Granick, J. L., & Armién, A. G. (2017). Histologic and Ultrastructural Findings in Dogs with Chronic Respiratory Disease Suspected of Ciliary Dyskinesia. Veterinary Pathology, 54(5), 802–812. https://doi.org/10.1177/0300985817705170.
Montaner, A. E., & Carceller, M. A. (2013). Discinesia ciliar primaria. Anales de Pediatria Continuada, 11(1). https://doi.org/10.1016/S1696-2818(13)70116-1.
Morrison, W. B., Wilsman, N. J., Fox, L. E., & Farnum, C. E. (1987). Primary Ciliary Dyskinesia in the Dog. Journal of Veterinary Internal Medicine, 1(2). https://doi.org/10.1111/j.1939-1676.1987.tb01989.x.
Noone, P. G., Leigh, M. W., Sannuti, A., Minnix, S. L., Carson, J. L., Hazucha, M., Zariwala, M. A., & Knowles, M. R. (2004). Primary ciliary dyskinesia: Diagnostic and phenotypic features. American Journal of Respiratory and Critical Care Medicine, 169(4), 459–467. https://doi.org/10.1164/rccm.200303-365OC.
O’Connor, M. G., Mosquera, R., Metjian, H., Marmor, M., Olivier, K. N., & Shapiro, A. J. (2023). Primary Ciliary Dyskinesia. Chest Pulmonary, 1(1). https://doi.org/10.1016/j.chpulm.2023.100004.
Olm, M. A. k, Caldini, E. G., & Manuad, T. (2015). Diagnosis of primary ciliary dyskinesia. Jornal Brasileiro de Pneunologia, 41(3), 251–263. https://doi.org/10.1590/S1806-37132015000004447.
Pigino, G., & Ishikawa, T. (2012). Axonemal radial spokes. BioArchitecture, 2(2), 50–58. https://doi.org/10.4161/bioa.20394.
Portuondo, L. R., Portuondo, C. A. B., & Suárez, G. A. (2014). Discinesia ciliar primaria. Revista Cubana de Pediatria, 86(4).
Pouzot-Nevoret, C., Magnin, M., Barthélemy, A., Goy-Thollot, I., Cambournac, M., Nectoux, A., & Allaouchiche, B. (2021). Effectiveness of chest physiotherapy using passive slow expiratory techniques in dogs with airway fluid accumulation: A randomized controlled trial. Journal of Veterinary Internal Medicine, 35(3), 1525–1535. https://doi.org/10.1111/jvim.16088.
Prata, C. R. S., Ferreira, D. A., Goulart, C. H. R., & Viana, P. R. F. (2024). Relato de caso: Síndrome de Kartagener. Brazilian Journal of Health Review, 7(2). https://doi.org/10.34119/bjhrv7n2-271.
Raidt, J., Staar, B. O., Omran, H., & Ringshausen, F. C. (2024). Primary ciliary dyskinesia. Innere Medizin, 65(6). https://doi.org/10.1007/s00108-024-01726-y.
Reichler, I. M., Hoerauf, A., Guscetti, F., Gardelle, O., Stoffel, M. H., Jentsch, B., Walt, H., & Arnold, S. (2001). Primary ciliary dyskinesia with situs inversus totalis, hydrocephalus internus and cardiac malformations in a dog. Journal of Small Animal Practice, 42(7), 345–348. https://doi.org/10.1111/j.1748-5827.2001.tb02471.x.
Romero, M. T., Rovira, S. A., & Rabasco, M. A. C. (2017). Manejo del paciente afecto de discinesia ciliar primaria. Protocole Diagnosis Pediatric, 1(1).
Santos, J. W. A., Waldow, A., Figueireddo, C. W. C., Kleinubing, D. R., & Barros, S. S. (2001). Discinesia ciliar primária. Jornal de Pneumologia, 27(5). https://doi.org/10.1590/s0102-35862001000500006.
Satir, P., Heuser, T., & Sale, W. S. (2014). A structural basis for how motile cilia beat. BioScience, 64(12), 1073–1083. https://doi.org/10.1093/biosci/biu180.
Sermeño, S. A., Benítez, K. V. C., & Pérez, C. J. (2024). Síndrome de Kartagener y artritis reumatoide. Reporte de caso. Alerta, Revista Científica del Instituto Nacional de Salud, 7(1). https://doi.org/10.5377/alerta.v7i1.16815.
Shapiro, A. J., & Leigh, M. W. (2017). Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure. Ultrastructural Pathology, 41(6), 373–385. https://doi.org/10.1080/01913123.2017.1362088.
Shapiro, A. J., Zariwala, M. A., Ferkol, T., Davis, S. D., Sagel, S. D., Dell, S. D., Rosenfeld, M., Olivier, K. N., Milla, C., Daniel, S. J., Kimple, A. J., Manion, M., Knowles, M. R., & Leigh, M. W. (2016). Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state-of-the-art review. Pediatric Pulmonology, 51(2), 115–132. https://doi.org/10.1002/ppul.23304.
Shapiro, H. M. (2008). Flow cytometry of bacterial membrane potential and permeability. In New Antibiotic Targets. Springer.
Shiraiwa, K., Watanabe, A., Sato, N., Nito, M., & Kobayashi, Y. (1995). Case Report on Situs Inversus Totalis in Two Sprague-Dawley Rats. Experimental Animals, 44(4), 341–345. https://doi.org/10.1538/expanim.44.341.
Shoemark, A., Boon, M., Brochhausen, C., Bukowy-Bieryllo, Z., de Santi, M. M., Goggin, P., Griffin, P., Hegele, R. G., Hirst, R. A., Leigh, M. W., Lupton, A., MacKenney, K., Omran, H., Pache, J. C., Pinto, A., Reinholt, F. P., Schroeder, J., Yiallouros, P., & Escudier, E. (2020). International consensus guideline for reporting transmission electron microscopy results in the diagnosis of Primary Ciliary Dyskinesia (BEAT PCD TEM Criteria). European Respiratory Journal, 55(4), 1900725. https://doi.org/10.1183/13993003.00725-2019.
Subramanian, S., & Kumar, M. (2024). The Association between the Abundance of Homozygous Deleterious Variants and the Morbidity of Dog Breeds. Biology, 13(8), 574. https://doi.org/10.3390/biology13080574.
Thornton, D. J., Rousseau, K., & McGuckin, M. A. (2008). Structure and function of the polymeric mucins in airways mucus. Annual Review of Physiology, 70, 459–486. https://doi.org/10.1146/annurev.physiol.70.113006.100702.
Watson, P. J., Herrtage, M. E., Peacock, M. A., & Sargan, D. R. (1999). Primary ciliary dyskinesia in Newfoundland dogs. Veterinary Record, 144(26), 718–725. https://doi.org/10.1136/vr.144.26.718.
Wee, W. B., Kinghorn, B. A., Davis, S. D., Ferkol, T. W., & Shapiro, A. J. (2024). Primary Ciliary Dyskinesia. Pediatrics, 153(6). https://doi.org/10.1542/peds.2023-063064.
Whitsett, J. A. (2018). Airway epithelial differentiation and mucociliary clearance. Annals of the American Thoracic Society, 15, S143–S148. https://doi.org/10.1513/AnnalsATS.201802-128AW.
Wloga, D., Joachimiak, E., Osinka, A., Ahmadi, S., & Majhi, S. (2024). Motile Cilia in Female and Male Reproductive Tracts and Fertility. Cells, 13(23). https://doi.org/10.3390/cells13231974.
WSAVA. (2018). The role of health-conscious breeding and genetic testing in reducing the impact of hereditary disease: Hereditary Disease Committee position paper (Vol. 1).
Zariwala, M. A., Knowles, M. R., & Omran, H. (2007). Genetic defects in ciliary structure and function. Annual Review of Physiology, 69, 423–450. https://doi.org/10.1146/annurev.physiol.69.040705.141301.
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