Kartagener syndrome: A diagnostic challenge in advanced age
DOI:
https://doi.org/10.33448/rsd-v15i3.50707Keywords:
Kartagener Syndrome, Ciliary motility disorders, Bronchiectasis, Situs inversus.Abstract
Kartagener Syndrome (KS) is a rare, autosomal recessive form of Primary Ciliary Dyskinesia (PCD), characterized by the classic triad of bronchiectasis, chronic rhinosinusitis, and situs inversus totalis. This study aims to report the case of a 67-year-old female patient with a history consistent with altered ciliary motility, including recurrent respiratory infections since childhood, chronic headache, hearing loss, and obstetric history suggestive of ciliary dysfunction. This is a case report based on clinical evaluation, medical record review, and analysis of complementary exams. During hospital admission for respiratory failure and chest pain, situs inversus totalis, bronchiectasis in the lower lobes, and chronic sinusitis were identified. The investigation confirmed the diagnosis of KS, with a sputum culture positive for Pseudomonas aeruginosa. Culture-guided antibiotic treatment was instituted, along with ventilatory support. This case illustrates the prolonged clinical course and multisystemic manifestations of Kartagener syndrome (KS), reinforcing the importance of early diagnostic suspicion, especially in patients with recurrent respiratory infections and suggestive radiological findings. Timely recognition allows for appropriate therapeutic intervention and prevention of complications.
References
Antony, D., Becker-Heck, A., Zariwala, M. A., Schmidts, M., Onoufriadis, A., Forouhan, M., Wilson, R., Taylor-Cox, T., Dewar, A., Jackson, C., Goggin, P., Loges, N. T., Olbrich, H., Jaspers, M., Jorissen, M., Leigh, M. W., Omran, H., Knowles, M. R., Chung, E. M. K., … Mitchison, H. M. (2013). Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganisation and absent inner dynein arms. Human Mutation, 34(3), 462–472. https://doi.org/10.1002/humu.22261
Balbino, M., Montatore, M., Masino, F., & Guglielmi, G. (2024). Kartagener's syndrome: A rare condition diagnosed in a young male patient. Radiology Case Reports, 19(7), 2741–2744. https://doi.org/10.1016/j.radcr.2024.03.067
Barker, A. (2025, January 8). Clinical manifestations and diagnosis of bronchiectasis in adults. UpToDate. Retrieved April 6, 2025, from https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-bronchiectasis-in-adults
Bergström, S.-E. (2024, November 13). Primary ciliary dyskinesia (immotile-cilia syndrome). UpToDate. Retrieved April 6, 2025, from https://www.uptodate.com/contents/primary-ciliary-dyskinesia-immotile-cilia-syndrome
Capone, D., Lopes, A. J., Louzada Junior, R. M., Levigard, R. B., Tesarollo, B., Capone, R. B., & Jansen, J. M. (2008). Síndrome de Kartagener. Pulmão RJ, 17(1), 55–56.
Guide, T. V., da Silva Gaspar, M. C., do Espírito Santo, M., Carneiro, R. M., & Rabello, E. (2022). Síndrome de kartagener: um relato de caso. Revista Ibero-Americana de Humanidades, Ciências e Educação, 8(5), 839-848.
Hill, A. T., Sullivan, A. L., Chalmers, J. D., De Soyza, A., Elborn, J. S., Floto, R. A., Grillo, L., Gruffydd-Jones, K., Harvey, A., Haworth, C. S., Hiscocks, E., Hurst, J. R., Johnson, C., Loebinger, M. R., O’Leary, C., Pasteur, M. C., Polverino, E., Smith, M. P., Tunney, M. M., … Wilson, R. (2019). British Thoracic Society guideline for bronchiectasis in adults. Thorax, 74(Suppl 1), 1–69.
Horani, A., Ferkol, T. W., Dutcher, S. K., & Brody, S. L. (2016). Primary ciliary dyskinesia and associated sensory ciliopathies. Pediatric Clinics of North America, 63(1), 205–233. https://doi.org/10.1016/j.pcl.2015.08.006
Knowles, M. R., Zariwala, M., & Leigh, M. (2016). Primary ciliary dyskinesia. Clinics in Chest Medicine, 37(3), 449–461
Lucas, J. S., Paff, T., & Goggin, P. (2016). Diagnostic methods in primary ciliary dyskinesia. Paediatric Respiratory Reviews, 18, 8–17
Martínez-García, M. A., Soler-Cataluña, J. J., Perpiñá-Tordera, M., Román-Sánchez, P., & Soriano, J. (2007). Factors associated with lung function decline in adult patients with stable non-cystic fibrosis bronchiectasis. Chest, 132(5), 1565–1572.
Mishra, M., Kumar, N., Jaiswal, A., Verma, A. K., & Kant, S. (2012). Kartagener's syndrome: A case series. Lung India, 29(4), 366–369. https://doi.org/10.4103/0970-2113.102831
Montalvo, C. M. M., Kozhakin, D. R., Hettinga, M. P., Escucha, C. G., Lopez, S. S., Lopez, H. O., & Carrillo, A. G. (2022). Actinomyces y síndrome de Kartagener: Reporte de caso y revisión de la literatura. Acta Médica Peruana, 39(1), 73-78.
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
Ortega, H. A. V., Vega, N. de A., Santos, B. Q. dos, & Maia, G. T. da S. (2007). Primary ciliary dyskinesia: Considerations regarding six cases of Kartagener syndrome. Jornal Brasileiro de Pneumologia, 33(5), 602–608. https://doi.org/10.1590/S1806-37132007000500017
Pasteur, M. C., Bilton, D., & Hill, A. T. (2010). British Thoracic Society guideline for non-CF bronchiectasis. Thorax, 65(Suppl. 1), i1–i58. https://doi.org/10.1136/thx.2010.136119
Pereira, A. S. et al. (2018). Metodologia da pesquisa científica. Santa Maria. Editora da UFSM.
Quirino, I. C. P., Cunha, R. M., Del Fiaco, L. G., … Vargas, R. G. (2023). Síndrome de Kartagener: Uma abordagem diagnóstica, evolução clínica e revisão. Brazilian Journal of Health Review, 6(5), 21338–21350. (Obs.: não consegui acessar o PDF/página do periódico (bloqueio 403) para confirmar todos os autores e DOI.)
Risemberg, R. I. C. et al. (2026). A importância da metodologia científica no desenvolvimento de artigos científicos. E-Acadêmica, 7(1), e0171675. https://eacademica.org/eacademica/article/view/675.
Shapiro, A. J., Davis, S. D., Polineni, D., Manion, M., Rosenfeld, M., Dell, S. D., Chilvers, M. A., Ferkol, T. W., Zariwala, M. A., Sagel, S. D., Olivier, K. N., Milla, C., Daniel, S. J., Kanne, J. P., Mullowney, T., Smyth, A. R., Lucas, J. S., & Leigh, M. W. (2018). Diagnosis of primary ciliary dyskinesia. An official American Thoracic Society clinical practice guideline. American Journal of Respiratory and Critical Care Medicine.
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., et al. (2016). Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations. Pediatric Pulmonology, 51(2), 115–132.
Takeuchi, K., Abo, M., Date, H., Gotoh, S., Kamijo, A., Kaneko, T., Keicho, N., Kodama, S., Koinuma, G., Kondo, M., Masuda, S., Mori, E., Morimoto, K., Nagao, M., Nakano, A., Nakatani, K., Nishida, N., Nishikido, T., Ohara, H., … Fujieda, S. (2024). Practical guide for the diagnosis and management of primary ciliary dyskinesia. Auris Nasus Larynx, 51(3), 553–568. https://doi.org/10.1016/j.anl.2024.02.001
Toassi, R. F. C. & Petry, P. C. (2021). Metodologia científica aplicada à área da saúde. (2ed). Editora da UFRGS.
Yin, R. K. (2015). O estudo de caso. Editora Bookman.
Zariwala, M. A., Knowles, M. R., & Omran, H. (2011). The emerging genetics of primary ciliary dyskinesia. Proceedings of the American Thoracic Society, 8(5), 430–433.
Downloads
Published
Issue
Section
License
Copyright (c) 2026 Sara Alves Almeida, Iury Mota da Silva, Gisa Costa de Macedo, Filadélfia Passos Rodrigues Martins

This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
1) Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
2) Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
3) Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.
