Primary ciliary dyskinesia patient registry for the Russian Federation: first edition

Currently, primary ciliary dyskinesia (PCD) is one of the most common hereditary diseases of the respiratory tract. The prevalence of PCD is estimated at approximately 1 case per 10,000 - 20,000, but this figure varies significantly among studies. Despite advances in diagnostics (genetic polymorphism is associated with > 60 genes in PCD), many patients are still diagnosed late, even in adulthood. The exact prevalence of PCD in the Russian Federation is unknown.

The aim of the study was to present the National Registry of Patients with PCD in the Russian Federation, which records health characteristics of the patients, their genetic diversity, assessment of the respiratory tract microbiome, and the organization of treatment.

Methods. The registry included patients (n = 109: 71 children, 38 adults) from 34 regions of the Russian Federation with a genetically confirmed diagnosis of PCD (the presence of 2 pathogenic variants, accounting for the mode of inheritance). A comprehensive diagnostic protocol according to the recommendations of the European Respiratory Society (ERS) was used. The study also included testing of respiratory tract biomaterial samples from patients using classical bacteriological methods with subsequent identification using matrix-assisted laser desorption/ ionization time-of-flight mass spectrometry (MALDI-TOF MS).

Results. The average age at diagnosis was 14.6 ± 13.8 years (median 10 years), indicating a significant diagnostic delay, especially in adults (median 32 years). In total, pathogenic variants were identified in 29 genes. The genes with an autosomal recessive inheritance pattern predominated (95.9%). The most frequent mutations were in the DNAH5 (39.4%) and DNAH11 (9.2%) genes. The most common clinical manifestations of the respiratory tract were chronic rhinosinusitis (90.8%), wet cough (93.6%), and bronchiectasis (76.3% of adults). A study of the etiologic structure of respiratory tract infections revealed that Staphylococcus aureus (53.8%) and Pseudomonas aeruginosa (38.7%) were the predominant bacteria across all age groups.

Conclusion. The study revealed deficiencies in the organization of care for patients with PCD, emphasizing the need for standardized diagnostic algorithms and early molecular genetic diagnosis to improve prognosis and quality of life.

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