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.
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The main causative agents of lung infection in patients with cystic fibrosis (CF) are P. aeruginosa, S. aureus and H. influenzae. In the last decade, gram-negative nonfermentative microorganisms (NFMO) - Вurkholderia cepacia complex (Bcc), Stenotrophomonas maltophilia, Achromobacter xylosoxidans and non-tuberculous mycobacteria, fungi of the genus Aspergillus have acquired the clinical significance. It is found that the chronic lung infection in 2/3 of the cases caused by association of microorganisms. Among hospitalized patients, in contrast to outpatients, these associations are represented by two, three or more species of microorganisms. The associations of P. aeruginosa + S. aureus (18,2 %) and P. aeruginosa + Bcc (9,1 %) are the most common. Other representatives - A. xylosoxidans, S. maltophilia and A. baumanii - is often identified in the associations of microorganisms. The focuses of chronic lung infections are formed in patients with increasing age. The dominant pathogens are P. aeruginosa and S. aureus. The methicillinresistant staphylococci and P. aeruginosa strains with a mucoid phenotype are of particular importance for cystic fibrosis patients. Bcc isolates from cystic fibrosis patients in Russia often belong to genomovar III A-B. cenocepacia. The Bcc strains colonize the lower airways of patients with CF and are able for long-term persistence and transmission from patient to patient. The resistance to many antibiotics is the main feature of the P. aeruginosa, S. aureus and Bcc strains. The strains of microorganisms with atypical phenotype (small colony variants) are formed under the action of the antibiotic. Infections caused by Bcc and other NFMO are difficult to identify and we need to use a wide range of bacteriological, biochemical, molecular biological techniques and mass spectrometry.
March 11, 2020 WHO has declared the COVID-19 coronavirus pandemic. The European Society for Cystic Fibrosis (ECFS) has developed the ECFSCOVID- 19 surveillance program to collect information on the characteristics of COVID-19 in patients with cystic fibrosis (CF). CF centers in the Russian Federation also joined the ECFS study. The ECFS collected information only through national Registers. In our country, the national register of CF patients has existed since 2011, its data is included in the European Register. Тo analyze the prevalence and course of COVID-19 in adult CF patients in Saint-Petersburg and the Leningrad region.Methods. From 11.03.20 to 24.12.20, 10 cases of adult CF patients (4 women, 6 men) with COVID-19 were analyzed in Saint-Petersburg and the Leningrad region. At the beginning of the study, 56 adult CF patients lived in Saint-Petersburg and Leningrad Region. All patients were monitored remotely by telephone, in case of ARVI symptoms, disease exacerbation, a PCR smear was performed on SARS-CoV-2, therapy was prescribed remotely, and inpatient treatment was prescribed if indicated.Results. COVID-19 was diagnosed in 10 adult CF patients aged 21 to 43 years. Two patients (32-year-old male and 31-year-old female with severe mixed cystic fibrosis form) were hospitalized with polysegmental pneumonia. 8 people were treated on an outpatient basis. Only 1 outpatient patient aged 43 years had pronounced clinical manifestations of COVID-19, the condition was regarded as moderate, the remaining outpatient patients suffered from a mild ARI disease. All patients were treated with positive dynamics. During the period of this follow – up, 3 CF patients (2 men, 1 woman) died, the death cause was the respiratory failure progression. Clinical and radiological, repeated laboratory data for COVID-19 were not obtained. At the point of December 24, 2020 53 adult CF patients are alive.Conclusion. According to our data, the incidence of COVID-19 among adult CF patients in Saint-Petersburg and the Leningrad Region was 17.85%, which is a lower indicator than in the general population. The disease was rarely severe, and effective treatment was noted in outpatient settings. There were no deaths from COVID-19.
The problem of timely diagnosis and proper management of patients with cystic fibrosis is crucial not only in our country, but throughout the world. Experts of the Union of Pediatricians of Russia have considered various issues of etiology, pathogenesis, epidemiology, diagnosis, and treatment of this genetic disease in a modern light. Particular attention was paid to screening methods for early diagnosis of cystic fibrosis. The principles of complex therapy were justified, including rational use of antibacterial and mucolytic drugs and enzyme replacement therapy that significantly determine the disease prognosis.
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