Primary ciliary dyskinesia in children: clinical, laboratory-instrumental and genetic characteristics

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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.

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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; Moscow

Dmitriy 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; Moscow

Alexander 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, Moscow

Maxim 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; Moscow

Elizaveta 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; Moscow

Sergei А. Bulynko

Morozov Children’s City Clinical Hospital

Email: mdgkb@zdrav.mos.ru
ORCID iD: 0000-0002-5045-7661

otorhinolaryngologist

Russian Federation, Moscow

Anna 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; Mytishchi

Valerii V. Gorev

Morozov Children’s City Clinical Hospital

Email: mdgkb@zdrav.mos.ru
ORCID iD: 0000-0001-8272-3648

Cand. Sci. (Med.)

Russian Federation, Moscow

Nikolay К. Grigoriadis

Morozov Children’s City Clinical Hospital

Email: mdgkb@zdrav.mos.ru
ORCID iD: 0000-0003-2066-9070

Department Head

Russian Federation, Moscow

Tatiana А. Gutyrchik

Morozov Children’s City Clinical Hospital

Email: mdgkb@zdrav.mos.ru
ORCID iD: 0000-0002-8421-1694

pulmonologist, Graduate Student

Russian Federation, Moscow

Evgenia 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, Moscow

Svetlana V. Zhilina

Morozov Children’s City Clinical Hospital

Email: mdgkb@zdrav.mos.ru
ORCID iD: 0000-0003-0084-1013

Cand. Sci. (Med.)

Russian Federation, Moscow

Maxim 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; Moscow

Nataliya 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; Moscow

Olga 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, Moscow

Evgeny L. Laberko

Morozov Children’s City Clinical Hospital

Email: Laberko.lor@mail.ru
ORCID iD: 0009-0005-5761-7487

Cand. Sci. (Med.)

Russian Federation, Moscow

Oleg G. Malyshev

Patrice Lumumba Peoples’ Friendship University of Russia

Email: omalyshev03@vk.com
ORCID iD: 0000-0003-1174-0736

Medical Resident

Russian Federation, Moscow

Elina A. Nafanailova

Morozov Children’s City Clinical Hospital

Email: mdgkb@zdrav.mos.ru
ORCID iD: 0009-0000-5971-2131

pulmonologist

Russian Federation, Moscow

Alina S. Reminnaia

Morozov Children’s City Clinical Hospital

Email: a_reminnaya@mail.ru
ORCID iD: 0009-0004-2714-4343

pulmonologist

Russian Federation, Moscow

Olga 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; Moscow

Natalia 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; Moscow

Svetlana 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 Petersburg

Oleg G. Topilin

Morozov Children’s City Clinical Hospital

Email: mdgkb@zdrav.mos.ru
ORCID iD: 0000-0002-5302-0502

thoracic surgeon

Russian Federation, Moscow

Anna G. Tsverava

Morozov Children’s City Clinical Hospital

Email: mdgkb@zdrav.mos.ru
ORCID iD: 0000-0001-6975-1337

pulmonologist 

Russian Federation, Moscow

Irina 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 Petersburg

Yuliya 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; Moscow

Tatiana I. Iushina

Morozov Children’s City Clinical Hospital

Email: mdgkb@zdrav.mos.ru
ORCID iD: 0000-0002-2017-189X

pulmonologist

Russian Federation, Moscow

Kirill 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, Moscow

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2. Fig. 1. Traction bilateral bronchiectases (BEs) according to chest CT in a 6-year-old boy with PCD (axial view).

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3. Fig. 2. Traction bilateral BEs according to chest CT in a 6-year-old boy with PCD (coronary view).

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4. Fig. 3. Chest X-ray of an 8-year-old girl: dextrocardia, the gastric air bubble is located on the right, and the liver is on the left (Siewert–Kartagener syndrome).

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5. Fig. 4. Immobile ciliated epithelium of the inferior nasal concha in a 3-year-old girl with PCD.

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6. Fig. 5. Results of transmission electron microscopy of a 6-year-old boy with PCD. Total absence of inner dynein arms. In 12 of the 43 cilia viewed on strictly transverse sections, the structure of the peripheral microtubule (MT) doublet was disturbed: the absence of one of the MT in the doublet, the shift of the doublet (red arrows). In 8 of the 43 cilia, the central pair of MT is shifted, or only 1 MT is present (blue arrows).

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