Primary ciliary dyskinesia (Kartagener syndrome): a case of late diagnosis and follow-up
O. I. Simonova,
L. R Selimzianova,
A. Yu Simonova,
Yu. V. Gorinova,
O. V. Kustova,
A. V. Lazareva,
M. M. Platonova,
E. A. Vishneva,
Yu. A. Bosenko https://doi.org/10.18093/0869-0189-2024-34-2-248-256
Abstract
Primary ciliary dyskinesia (PCD) is an autosomal recessive disease that develops as a result of an ultrastructural defect of the cilia and flagella. The symptoms are non-specific, especially in childhood, and are characterized by recurrent rhinitis and bronchitis, often with obstruction. Half of the patients with PCD are diagnosed with such clear clinical manifestation as Kartagener’s syndrome (chronic bronchitis, chronic sinusitis, reverse position of internal organs (situs inversus), but even in these cases the diagnosis can be difficult.
The aim of this paper was to demonstrate a clinical case of late diagnosis of PCD in a child with classic Kartagener syndrome and concomitant atopy, and the results of 11 years of follow-up and microbiological monitoring. The stages of the diagnostic search are presented in detail and typical errors on the way to diagnosis are analyzed.
Conclusion. This clinical observation demonstrates the difficulties of diagnosing PCD in a patient with concomitant atopy. It is noted that appropriate continued monitoring and timely therapy are crucial for children with PCD. The need to standardize approaches to the diagnosis and management of patients with PCD, including continuity during transfer to the adult healthcare network, is emphasized.
About the Authors
O. I. Simonova
Federal State Autonomous Institution “National Medical Research Center for Children’s Health” of the Ministry of Health of the Russian Federation;
Federal State Autonomous Educational Institution of Higher Education I.M.Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University)
Russian Federation
Russian Federation
Olga I. Simonova, Doctor of Medicine, Pediatrician, Head of the Pulmonology Department Federal State Autonomous Institution “National Medical Research Center for Children’s Health” of the Ministry of Health of the Russian Federation; Professor, Federal State Autonomous Educational Institution of Higher Education I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University)
Lomonosovskiy prosp. 2, build. 1, Moscow, 119296,
ul. Trubetskaya 8, build. 2, Moscow, 119991
L. R Selimzianova
Federal State Autonomous Educational Institution of Higher Education I.M.Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University);
Research Institute of Pediatrics and Children’s Health, Scientific and Clinical Center No.2, Federal State Budgetary Scientific Institution “Petrovsky National Research Centre of Surgery”, Ministry of Science and Higher Education of the Russian Federation;
Federal State Autonomous Educational Institution of Higher Education “N.I.Pirogov Russian National Research Medical University” of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Liliya R. Selimzyanova, Candidate of Medicine, Head of Department, Research Institute of Pediatrics and Children’s Health, Research Institute of Pediatrics and Children’s Health, Scientific and Clinical Center No.2, of Federal State Budgetary Scientific Institution “Petrovsky National Research Centre of Surgery”, Ministry of Science and Higher Education of the Russian Federation; Associate Professor, Department of Faculty Pediatrics, Faculty of Pediatrics, Federal State Autonomous Educational Institution of Higher Education “N.I.Pirogov Russian National Research Medical University” of the Ministry of Health of the Russian Federation; Associate Professor, Department of Pediatrics and Pediatric Rheumatology, Clinical Institute of Child Health named after N.F.Filatov, Federal State Autonomous Educational Institution of Higher Education I.M.Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University)
ul. Trubetskaya 8, build. 2, Moscow, 119991,
ul. Fotiyevoy 10, build. 1, Moscow, 117593,
ul. Ostrovityanova 1, Moscow, 117997
A. Yu Simonova
Federal State Autonomous Institution “National Medical Research Center for Children’s Health” of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Alexandra Yu. Simonova, Candidate of Medicine, Pulmonologist
Lomonosovskiy prosp. 2, build. 1, Moscow, 119296
Yu. V. Gorinova
Federal State Autonomous Institution “National Medical Research Center for Children’s Health” of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Yulia V. Gorinova, Candidate of Medicine, Pulmonologist, Senior Researcher
Lomonosovskiy prosp. 2, build. 1, Moscow, 119296
O. V. Kustova
Federal State Autonomous Institution “National Medical Research Center for Children’s Health” of the Ministry of Health of the Russian Federation.
Russian Federation
Russian Federation
Olga V. Kustova, Radiologist
Lomonosovskiy prosp. 2, build. 1, Moscow, 119296
A. V. Lazareva
Federal State Autonomous Institution “National Medical Research Center for Children’s Health” of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Anna V. Lazareva, Doctor of Medicine, Head of Microbiology Laboratory
Lomonosovskiy prosp. 2, build. 1, Moscow, 119296
M. M. Platonova
Research Institute of Pediatrics and Children’s Health, Scientific and Clinical Center No.2, Federal State Budgetary Scientific Institution “Petrovsky National Research Centre of Surgery”, Ministry of Science and Higher Education of the Russian Federation
Russian Federation
Russian Federation
Maria M. Platonova, Candidate of Medicine, Pulmonologist, Senior Researcher, Research Institute of Pediatrics and Children’s Health
ul. Fotiyevoy 10, build. 1, Moscow, 117593
E. A. Vishneva
Research Institute of Pediatrics and Children’s Health, Scientific and Clinical Center No.2, Federal State Budgetary Scientific Institution “Petrovsky National Research Centre of Surgery”, Ministry of Science and Higher Education of the Russian Federation;
Federal State Autonomous Educational Institution of Higher Education “N.I.Pirogov Russian National Research Medical University” of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Elena A. Vishneva, Doctor of Medicine, Professor of Russian Academy of Sciences, Deputy Head for Science, Research Institute of Pediatrics and Children’s Health, Research Institute of Pediatrics and Children’s Health, Scientific and Clinical Center No.2, of Federal State Budgetary Scientific Institution “Petrovsky National Research Centre of Surgery”, Ministry of Science and Higher Education of the Russian Federation; Professor, Department of Faculty Pediatrics of the Pediatric Faculty, Federal State Autonomous Educational Institution of Higher Education “N.I. Pirogov Russian National Research Medical University” of the Ministry of Health of the Russian Federation
ul. Fotiyevoy 10, build. 1, Moscow, 117593,
ul. Ostrovityanova 1, Moscow, 117997
Yu. A. Bosenko
Limited Liability Company “Preambula”
Russian Federation
Russian Federation
Yulia A. Bosenko, Candidate of Medicine, Allergist-Immunologist
ul. Okskaya 3, build. 1, Moscow, 109117
References
1. Eber E., Midulla F., eds. ERS Handbook of Pediatric Respiratory Medicine. 2nd Edn. European Respiratory Society; 2021. DOI: 10.1183/9781849841313.eph01.
2. Nussbaumer M., Kieninger E., Tschanz S.A. et al. Diagnosis of primary ciliary dyskinesia: discrepancy according to different algorithms. ERJ Open Res. 2021; 7 (4): 00353-2021. DOI: 10.1183/23120541.00353-2021.
3. Kuehni C.E., Frischer T., Strippoli M.P. et al. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. Eur. Respir. J. 2010; 36 (6): 1248–1258. DOI: 10.1183/09031936.00001010.
4. Vishneva E., Selimzyanova L., Sereda E. Difficulties of primary ciliary dyskinesia diagnosis in children. Eur. Respir. J. 2013; 42 (Suppl. 57): 1236. Available at: https://www.ers-education.org/lr/show-details/?idP=126729
5. Nikolaeva E.D., Ovsyannikov D.Yu., Strel’nikova V.A. et al. [Characteristics of patients with primary ciliary dyskinesia]. Pul’monologiya. 2023; 33 (2): 198–209. DOI: 10.18093/0869-0189-2023-33-2-198-209 (in Russian).
6. Behan L., Dimitrov B.D., Kuehni C.E. et al. PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia. Eur. Respir. J. 2016; 47 (4): 1103–1112. DOI: 10.1183/13993003.01551-2015.
7. Demchenko A.G., Smirnikhina S.A. [Ciliated cell cultures for diagnosis of primary ciliary dyskinesia]. Pul’monologiya. 2023; 33 (2): 210–215. DOI: 10.18093/0869-0189-2023-33-2-210-215 (in Russian).
8. Ferraro V.A., Baraldi E., Stabinger D. et al. Pediatric flexible bronchoscopy: a single-center report. Pediatr. Pulmonol. 2021; 56 (8): 2634–2641. DOI: 10.1002/ppul.25458. 9. Djakow J., O’Callaghan C. Primary ciliary dyskinesia. Breathe. 2014; 10: 122–133. DOI: 10.1183/20734735.007413
9. Raidt J., Brillault J., Brinkmann F. et al. [Management of primary ciliary dyskinesia]. Pneumologie. 2020; 74 (11): 750–765. DOI: 10.1055/a-1235-1520.
10. Leigh M.W., Ferkol T.W., Davis S.D. et al. Clinical features and associated likelihood of primary ciliary dyskinesia in children and adolescents. Ann. Am. Thorac. Soc. 2016; 13 (8): 1305–1313. DOI: 10.1513/AnnalsATS.201511-748OC.
11. Antony D., Brunner H.G., Schmidts M. Ciliary dyneins and dynein related ciliopathies. Cells. 2021; 10 (8):1885. DOI: 10.3390/cells10081885.
12. Shapiro A.J., Zariwala M.A., Ferkol T. et al. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatr. Pulmonol. 2016; 51 (2): 115–132. DOI: 10.1002/ppul.23304.
13. Marthin J.K., Lucas J.S., Boon M. et al. International BEAT-PCD consensus statement for infection prevention and control for primary ciliary dyskinesia in collaboration with ERN-LUNG PCD Core Network and patient representatives. ERJ Open Res. 2021; 7 (3): 00301-2021. DOI: 10.1183/23120541.00301-2021.
14. Alanin M.C., Nielsen K.G., von Buchwald C. et al. A longitudinal study of lung bacterial pathogens in patients with primary ciliary dyskinesia. Clin. Microbiol. Infect. 2015; 21: 1093.e1–1093.e7. DOI: 10.1016/j.cmi.2015.08.020.
15. Wijers C.D., Chmiel J.F, Gaston B.M. Bacterial infections in patients with primary ciliary dyskinesia: comparison with cystic fibrosis. Chron. Respir. Dis. 2017; 14 (4): 392–406. DOI: 10.1177/1479972317694621.
16. Holgersen M.G., Marthin J.K., Johansen H.K., Nielsen K.G. A retrospective review of Achromobacter species and antibiotic treatments in patients with primary ciliary dyskinesia. Chron. Respir. Dis. 2021; 18: 14799731211061600. DOI: 10.1177/14799731211061600
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For citations:
Simonova O.I., Selimzianova L.R., Simonova A.Yu., Gorinova Yu.V., Kustova O.V., Lazareva A.V., Platonova M.M., Vishneva E.A., Bosenko Yu.A. Primary ciliary dyskinesia (Kartagener syndrome): a case of late diagnosis and follow-up. PULMONOLOGIYA. 2024;34(2):248-256. (In Russ.) https://doi.org/10.18093/0869-0189-2024-34-2-248-256
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