Primary ciliary dyskinesia in children: clinical, laboratory-instrumental and genetic characteristics
- Authors: Strelnikova V.A.1,2, Ovsyannikov D.Y.1,2, Pushkov A.А.3, Ayrapetyan M.I.4,5, Bragina E.Е.6,7, Bulynko S.А.2, Voronkova A.Y.6,8, Gorev V.V.2, Grigoriadis N.К.2, Gutyrchik T.А.2, Deeva E.V.2, Zhilina S.V.2, Karpenko M.А.1,2, Kolganova N.I.1,2, Kondakova O.B.3, Laberko E.L.2, Malyshev O.G.1, Nafanailova E.A.2, Reminnaia A.S.2, Simonova O.I.2,3,4, Sokolova N.А.2,5, Starevskaia S.V.9,10, Topilin O.G.2, Tsverava A.G.2, Shmeleva I.O.9,11, Shubina Y.F.2,5, Iushina T.I.2, Savost'anov K.V.3
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Affiliations:
- Patrice Lumumba Peoples’ Friendship University of Russia
- Morozov Children’s City Clinical Hospital
- National Medical Research Center for Children’s Health
- Sechenov First Moscow State Medical University (Sechenov University)
- Pirogov Russian National Research Medical University
- Bochkov Research Centre for Medical Genetics
- Lomonosov Moscow State University
- Moscow Regional Consultative and Diagnostic Center for Children
- Saint Petersburg State Research Institute of Phthisiopulmonology
- 10Mechnikov North-Western State Medical University
- Mechnikov North-Western State Medical University
- Issue: No 3 (2024)
- Pages: 280-288
- Section: Articles
- URL: https://pediatria.orscience.ru/2658-6630/article/view/634391
- DOI: https://doi.org/10.26442/26586630.2024.3.202914
- ID: 634391
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Abstract
Background. Primary ciliary dyskinesia (PCD) is an orphan disease, and diagnosis is difficult because there is no gold standard for diagnosis.
Aim. Clinical, laboratory-instrumental, genetic characteristics of PCD in children.
Materials and methods. From 2009 to 2024, 31 patients with a genetically confirmed diagnosis of PCD were observed as part of a multicenter, open-ended, descriptive pilot longitudinal study. Examination methods: clinical and anamnestic method; X-ray examination and computed tomography of the chest organs and paranasal sinuses, tracheobronchoscopy; sputum/aspirate cultures of the tracheobroncheal tree with determination of sensitivity to antibiotics; transmission electron microscopy, high-speed video microscopy of the ciliated epithelium, cytological examination of bronchoalveolar lavage; monitoring computer pulse oximetry, echocardiography, audiometry, spirometry with bronchodilator test.
Results. Respiratory symptoms in the neonatal period have 80% of children with PCD, lateralization defects – 35%, congenital heart defects – 13%, bronchiectasis – 68%, purulent endobronchitis – 62%, year-round rhinitis – 84%, hearing loss, otitis – 65%. The average age of onset of symptoms was 1 [1; 1] weeks, and the verification of diagnosis was 6 [2,5; 8] years. The main pathogens of chronic respiratory infection with PCD are Haemophilus influenzae, Pseudomonas aeruginosa, Staphylococcus aureus. The most common cause of PCD was biallelic variants of the DNAH5 gene.
Conclusion. The diagnosis of PCD should be based on the application of the maximum number of diagnostic tests.
Keywords
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About the authors
Valeriia A. Strelnikova
Patrice Lumumba Peoples’ Friendship University of Russia; Morozov Children’s City Clinical Hospital
Author for correspondence.
Email: doc.strelnikova@mail.ru
ORCID iD: 0000-0002-2082-5531
Аssistant
Russian Federation, Moscow; MoscowDmitriy Y. Ovsyannikov
Patrice Lumumba Peoples’ Friendship University of Russia; Morozov Children’s City Clinical Hospital
Email: mdovsyannikov@yahoo.com
ORCID iD: 0000-0002-4961-384X
D. Sci. (Med.)
Russian Federation, Moscow; MoscowAlexander А. Pushkov
National Medical Research Center for Children’s Health
Email: pushkovgenetika@gmail.com
ORCID iD: 0000-0001-6648-2063
Cand. Sci. (Biol.)
Russian Federation, MoscowMaxim I. Ayrapetyan
Sechenov First Moscow State Medical University (Sechenov University); Pirogov Russian National Research Medical University
Email: doc@pedklin.ru
ORCID iD: 0000-0002-0348-929X
Cand. Sci. (Med.)
Russian Federation, Moscow; MoscowElizaveta Е. Bragina
Bochkov Research Centre for Medical Genetics; Lomonosov Moscow State University
Email: registratura@med-gen.ru
ORCID iD: 0000-0002-8422-4962
D. Sci. (Biol.)
Russian Federation, Moscow; MoscowSergei А. Bulynko
Morozov Children’s City Clinical Hospital
Email: mdgkb@zdrav.mos.ru
ORCID iD: 0000-0002-5045-7661
otorhinolaryngologist
Russian Federation, MoscowAnna Y. Voronkova
Bochkov Research Centre for Medical Genetics; Moscow Regional Consultative and Diagnostic Center for Children
Email: voronkova111@yandex.ru
ORCID iD: 0000-0002-8183-7990
Cand. Sci. (Med.)
Russian Federation, Moscow; MytishchiValerii V. Gorev
Morozov Children’s City Clinical Hospital
Email: mdgkb@zdrav.mos.ru
ORCID iD: 0000-0001-8272-3648
Cand. Sci. (Med.)
Russian Federation, MoscowNikolay К. Grigoriadis
Morozov Children’s City Clinical Hospital
Email: mdgkb@zdrav.mos.ru
ORCID iD: 0000-0003-2066-9070
Department Head
Russian Federation, MoscowTatiana А. Gutyrchik
Morozov Children’s City Clinical Hospital
Email: mdgkb@zdrav.mos.ru
ORCID iD: 0000-0002-8421-1694
pulmonologist, Graduate Student
Russian Federation, MoscowEvgenia V. Deeva
Morozov Children’s City Clinical Hospital
Email: evgenia.v.deeva@gmail.com
ORCID iD: 0000-0002-0352-2563
Cand. Sci. (Med.)
Russian Federation, MoscowSvetlana V. Zhilina
Morozov Children’s City Clinical Hospital
Email: mdgkb@zdrav.mos.ru
ORCID iD: 0000-0003-0084-1013
Cand. Sci. (Med.)
Russian Federation, MoscowMaxim А. Karpenko
Patrice Lumumba Peoples’ Friendship University of Russia; Morozov Children’s City Clinical Hospital
Email: karpenko.ma@mail.ru
ORCID iD: 0000-0001-7937-722X
Cand. Sci. (Med.)
Russian Federation, Moscow; MoscowNataliya I. Kolganova
Patrice Lumumba Peoples’ Friendship University of Russia; Morozov Children’s City Clinical Hospital
Email: nki97@yandex.ru
ORCID iD: 0000-0001-6923-6060
Graduate Student
Russian Federation, Moscow; MoscowOlga B. Kondakova
National Medical Research Center for Children’s Health
Email: kondakovao68@gmail.com
ORCID iD: 0000-0002-6316-9992
Cand. Sci. (Med.)
Russian Federation, MoscowEvgeny L. Laberko
Morozov Children’s City Clinical Hospital
Email: Laberko.lor@mail.ru
ORCID iD: 0009-0005-5761-7487
Cand. Sci. (Med.)
Russian Federation, MoscowOleg G. Malyshev
Patrice Lumumba Peoples’ Friendship University of Russia
Email: omalyshev03@vk.com
ORCID iD: 0000-0003-1174-0736
Medical Resident
Russian Federation, MoscowElina A. Nafanailova
Morozov Children’s City Clinical Hospital
Email: mdgkb@zdrav.mos.ru
ORCID iD: 0009-0000-5971-2131
pulmonologist
Russian Federation, MoscowAlina S. Reminnaia
Morozov Children’s City Clinical Hospital
Email: a_reminnaya@mail.ru
ORCID iD: 0009-0004-2714-4343
pulmonologist
Russian Federation, MoscowOlga I. Simonova
Morozov Children’s City Clinical Hospital; National Medical Research Center for Children’s Health; Sechenov First Moscow State Medical University (Sechenov University)
Email: oisimonova@mail.ru
ORCID iD: 0000-0002-2367-9920
D. Sci. (Med.)
Russian Federation, Moscow; Moscow; MoscowNatalia А. Sokolova
Morozov Children’s City Clinical Hospital; Pirogov Russian National Research Medical University
Email: sokolova.nat@mail.ru
ORCID iD: 0000-0002-0323-086X
Cand. Sci. (Med.)
Russian Federation, Moscow; MoscowSvetlana V. Starevskaia
Saint Petersburg State Research Institute of Phthisiopulmonology; 10Mechnikov North-Western State Medical University
Email: svetlanastarevskaya@yandex.ru
ORCID iD: 0000-0002-5778-2213
D. Sci. (Med.)
Russian Federation, Saint-Petersburg; Saint PetersburgOleg G. Topilin
Morozov Children’s City Clinical Hospital
Email: mdgkb@zdrav.mos.ru
ORCID iD: 0000-0002-5302-0502
thoracic surgeon
Russian Federation, MoscowAnna G. Tsverava
Morozov Children’s City Clinical Hospital
Email: mdgkb@zdrav.mos.ru
ORCID iD: 0000-0001-6975-1337
pulmonologist
Russian Federation, MoscowIrina O. Shmeleva
Saint Petersburg State Research Institute of Phthisiopulmonology; Mechnikov North-Western State Medical University
Email: shmeleva@mail.ru
ORCID iD: 0000-0001-9506-9286
pulmonologist
Russian Federation, Saint-Petersburg; Saint PetersburgYuliya F. Shubina
Morozov Children’s City Clinical Hospital; Pirogov Russian National Research Medical University
Email: mdgkb@zdrav.mos.ru
ORCID iD: 0000-0001-8661-3817
Cand. Sci. (Med.)
Russian Federation, Moscow; MoscowTatiana I. Iushina
Morozov Children’s City Clinical Hospital
Email: mdgkb@zdrav.mos.ru
ORCID iD: 0000-0002-2017-189X
pulmonologist
Russian Federation, MoscowKirill V. Savost'anov
National Medical Research Center for Children’s Health
Email: savostyanovkv@nczd.ru
ORCID iD: 0000-0003-4885-4171
D. Sci. (Biol.)
Russian Federation, MoscowReferences
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