Primary ciliary dyskinesia: review of the draft clinical guidelines, 2022-Reference-Cited by-同舟云学术

Primary ciliary dyskinesia: review of the draft clinical guidelines, 2022

Published:2022-08-15 Issue:4 Volume:32 Page:517-538
ISSN:2541-9617
Container-title:PULMONOLOGIYA
language:
Short-container-title:Pulʹmonologiâ (Mosk.)

Author:

Kondratyeva E. I.¹^ORCID,Avdeev S. N.²^ORCID,Mizernitskiy Yu. L.³^ORCID,Polyakov A. V.⁴^ORCID,Chernukha M. Yu.⁵^ORCID,Kondratenko O. V.⁶^ORCID,Namazova-Baranova L. S.⁷^ORCID,Vishneva E. A.⁷^ORCID,Selimzyanova L. R.⁸^ORCID,Simonova O. I.⁹^ORCID,Gembitskaya T. E.¹⁰^ORCID,Bragina E. E.¹¹^ORCID,Rachina S. A.¹²^ORCID,Malakhov A. B.¹²^ORCID,Polyakov D. P.¹³^ORCID,Odinaeva N. D.¹⁴^ORCID,Kutsev S. I.⁴^ORCID

Affiliation:

1. Federal State Budgetary Scientific Institution “Academician N. P. Bochkov Medical Genetic Research Center”; State budgetary healthcare institution Moscow region “Research Clinical Institute of Childhood”, Ministry of Health of the Moscow Region

2. Federal State Autonomous Educational Institution of Higher Education I.M.Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University); Federal Pulmonology Research Institute, Federal Medical and Biological Agency of Russia

3. The Research Clinical Institute of Pediatrics named after Academician Yuri Veltischev of Pirogov Russian National Research Medical University (Pirogov Medical University), Ministry of Health of the Russian Federation

4. Federal State Budgetary Scientific Institution “Academician N. P. Bochkov Medical Genetic Research Center”

5. The National Research Center for Epidemiology and Microbiology named after Honorary Academician N. F. Gamaleya, Ministry of Health of the Russian Federation

6. Federal State Budgetary Educational Institution of Higher Education “Samara State Medical University”, Ministry of Health of the Russian Federation

7. Pediatrics and Child Health Research Institute of the “Central Clinical Hospital of the Russian Academy of Sciences”, Ministry of Education and Science of Russia; Pirogov Russian National Research Medical University (Pirogov Medical University), Ministry of Health of the Russian Federation

8. Federal State Autonomous Educational Institution of Higher Education I. M.Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University); Pediatrics and Child Health Research Institute of the “Central Clinical Hospital of the Russian Academy of Sciences”, Ministry of Education and Science of Russia; Pirogov Russian National Research Medical University (Pirogov Medical University), Ministry of Health of the Russian Federation

9. Federal State Autonomous Educational Institution of Higher Education I. M.Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University); Federal State Autonomous Institution “National Medical Research Center for Children’s Health”, Ministry of Health of the Russian Federation

10. Federal State Budgetary Educational Institution of Higher Education “Academician I. P. Pavlov First St. Petersburg State Medical University”, Ministry of Healthcare of Russian Federation

11. Federal State Budgetary Scientific Institution “Academician N. P. Bochkov Medical Genetic Research Center”; The A. N. Belozersky Institute оf Physico-Chemical Biology, Federal State Budget Educational Institution of Higher Education M. V. Lomonosov Moscow State University

12. Federal State Autonomous Educational Institution of Higher Education I. M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University)

13. Pirogov Russian National Research Medical University (Pirogov Medical University), Ministry of Health of the Russian Federation; Federal State Budgetary Institution “The National Medical Research Center for Otorhinolaryngology of the Federal Medico-Biological Agency of Russia”

14. State budgetary healthcare institution Moscow region “Research Clinical Institute of Childhood”, Ministry of Health of the Moscow Region

Abstract

Primary ciliary dyskinesia (PCD) is a rare hereditary disease from the group of ciliopathies, which is based on a defect in the cilia ultrastructure of the respiratory epithelium and similar structures (sperm flagella, villi of the fallopian tubes, ventricular ependyma, etc.), leading to motor function impairment. The prevalence of the disease varies significantly around the world and is not known reliably in the Russian Federation.The aim of the review was to analyze literature data on modern approaches to the diagnosis and treatment of PCD.Methodology. The data of 90 articles and the opinions of experts providing care to patients with PCD were used.Results. The classic manifestations of PCD depend on age. The leading manifestations of the disease in patients with PCD are recurrent inflammatory diseases of the upper and lower respiratory tract (bronchitis, pneumonia), with the formation of bronchiectasis, damage to the ENT organs (chronic rhinitis, rhinosinusitis, nasal polyposis, repeated otitis media, progressive hearing loss). Currently, there is no single method which could serve as a “gold” standard for diagnosing PCD. The diagnosis of PCD is based on the characteristic clinical picture in combination with the results of special tests (nitric oxide in exhaled air, DNA diagnostics, high-speed video microscopy, transmission electron microscopy). The genetic diagnostics has not been developed sufficiently in the global practice yet and is unavailable in our country. The approach to the treatment of a patient with PCD should be multidisciplinary due to multiple organ lesions. According to the European consensus, the goal of PCD therapy is to restore or maintain normal lung function. There have been no randomized trials of treatment for PCD, and therefore all treatment recommendations are based on very low-level evidence or extrapolated from cystic fibrosis guidelines. Recommendations on mucolytic, antibacterial and anti-inflammatory therapy of PCD are given with consideration for the international and domestic experience.Conclusion. The development of a new version of clinical guidelines containing up-to-date relevant information will improve the diagnosis and treatment of PCD in the Russian Federation.

Publisher

Scientific and Practical Reviewed Journal Pulmonology

Subject

Pulmonary and Respiratory Medicine

Reference90 articles.

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