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

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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Journal
Pediatrics Consilium Medicum
Published
2024-10-16
DOI
https://doi.org/10.26442/26586630.2024.2.202914
Citations
2
Primary Topic
Neonatal Respiratory Health Research
Type
article
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0.84
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article

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

Evgeny L. Laberko, O.G. Topilin, A.G. Tsverava, Maxim I. Ayrapetyan et al.
2 citations
Pediatrics Consilium Medicum
Neonatal Respiratory Health Research
0.84
article

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

Evgeny L. Laberko, O.G. Topilin, A.G. Tsverava, Maxim I. Ayrapetyan, С. В. Жилина, Tatiana А. Gutyrchik, А. А. Пушков, О. И. Симонова, N.I. Kоlganova, Kirill V. Savostyanov, V.A. Strelnikova, Е. В. Деева, Olga B. Kondakova, M.A. Karpenko, Yu. F. Shubina, В.В. Горев, Е. Е. Брагина, N.K. Grigoriadis, Oleg G. Malyshev, S A Bulynko, A. Voronkova, Tatiana I. Iushina, Irina O. Shmeleva, D.Yu. Ovsyannikov, N. A. Sokolova, Elina A. Nafanailova, Alina S. Reminnaia, Svetlana V. Starevskaia
article en
2 citations

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.

Pediatrics Consilium Medicum(2)
Peoples' Friendship University of Russia (RU), Sechenov University (RU), Lomonosov Moscow State University (RU), Pirogov Russian National Research Medical University (RU), Center for Children (US), Consultative and Diagnostic Center (RU), Research Centre for Medical Genetics (RU), City Clinical Hospital (RU), Saint-Petersburg Research Institute of Phthisiopulmonology (RU), Moscow State University (TJ), North-Western State Medical University named after I.I. Mechnikov (RU)
Good health and well-being
Openalex Percentile: Top 23%
Neonatal Respiratory Health Research
0.84
DOIOpen Access PDFOpenAlex
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