Possibilities and limitations in diagnosing primary ciliary dyskinesia in Russia
https://doi.org/10.31146/2949-4664-apps-3-2-5-15
Abstract
Primary ciliary dyskinesia (PCD) is a rare disease (MIM 244400), an autosomal recessive inherited disorder characterized by dysfunction of the motile cilia. The main manifestations of PCD are chronic upper and lower respiratory tract infections, organ malpositions (in approximately 50% of PCD cases (Kartagener syndrome)), congenital heart defects, infertility in men, and an increased risk of ectopic pregnancies in women.
Objective — to present data on current methods applied to diagnosing PCD in the Russian Federation. Diagnosing PCD is challenging, as there is no single “gold standard” that allows accurate identification or exclusion of the disease. This requires a series of specialized studies relying on a combination of clinical data, genetic testing, and examination of ciliary ultrastructure and function. Additional tests include exhaled nitric oxide levels and repeated tests on ciliary culture samples. Pediatricians, neonatologists, pulmonologists and otorhinolaryngologists should maintain high awareness of PCD and refer patients to specialized centers to confirm the diagnosis.
About the Authors
E. I. Kondratyeva
Research Centre for Medical Genetics; Clinical Research Institute for Childhood Diseases, Moscow Region Ministry of Health
Russian Federation
Russian Federation
Elena I. Kondratyeva, Dr. Sci. (Med.), Prof., Head of Scientific and Clinical Department of Cystic Fibrosis, Head of Department of Respiratory Disease Genetics, Institute of Higher and Additional Professional Education; Deputy Director for Research
1, Moskvorechye str., Moscow, 115522
24A, b. 1, Kominterna str., Mytishchi, 141009
T. A. Kiyan
Research Centre for Medical Genetics; Clinical Research Institute for Childhood Diseases, Moscow Region Ministry of Health
Russian Federation
Russian Federation
Tatiana A. Kyian, Cand. Sci. (Med.), Senior Researcher, Scientific and Clinical Department of Cystic Fibrosis; Senior Researcher, Scientific and Organizational Department
1, Moskvorechye str., Moscow, 115522
24A, b. 1, Kominterna str., Mytishchi, 141009
Yu. L. Melyanovskaya
Research Centre for Medical Genetics; Clinical Research Institute for Childhood Diseases, Moscow Region Ministry of Health
Russian Federation
Russian Federation
Yuliya L. Melyanovskaya, Cand. Sci. (Med.), Senior Researcher, Scientific and Clinical Department of Cystic Fibrosis; Assistant Professor at the Department of Clinical Genetics and Orphan Diseases
1, Moskvorechye str., Moscow, 115522
24A, b. 1, Kominterna str., Mytishchi, 141009
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For citations:
Kondratyeva E.I., Kiyan T.A., Melyanovskaya Yu.L. Possibilities and limitations in diagnosing primary ciliary dyskinesia in Russia. Archives of Pediatrics and Pediatric Surgery. 2025;3(2):5-15. (In Russ.) https://doi.org/10.31146/2949-4664-apps-3-2-5-15
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