The aim of this investigation was to analyse the register of cystic fibrosis (CF) patients of Central Federal District (CFD) of Russian Federation (RF) in 2017. The register of CF patients includes data on 3096 people from 81 regions-entities of RF. CF patients in CFD represent 30% of total amount of patients included in the register. The full data presents 9 regions. The data of the rest 9 regions is presented partially. There is a list of genetically, clinical and microbiological peculiarities in comparison with RF in general and, at the same time, with other districts of CFD. The difference between adult patients and average age of patients by areas of received treatment, laboratory and instrumental indicators. There are obvious differences in infection indicators of the same age groups, there is difference in provided therapy. The analysis of the register data will enable to optimize aid to CF patients in CFD, to take over the experience of regions with the best indicators and criteria of the progress of the disease.

The aim of this investigation was to analyse the register of cystic fibrosis (CF) patients of Central Federal District (CFD) of Russian Federation (RF) in 2017. The register of CF patients includes data on 3096 people from 81 regions-entities of RF. CF patients in CFD represent 30% of total amount of patients included in the register. The full data presents 9 regions. The data of the rest 9 regions is presented partially. There is a list of genetically, clinical and microbiological peculiarities in comparison with RF in general and, at the same time, with other districts of CFD. The difference between adult patients and average age of patients by areas of received treatment, laboratory and instrumental indicators. There are obvious differences in infection indicators of the same age groups, there is difference in provided therapy. The analysis of the register data will enable to optimize aid to CF patients in CFD, to take over the experience of regions with the best indicators and criteria of the progress of the disease.

Детская клиническая больница № 1, ярославль 150003, Российская Федерация 36 Клиническая больница № 2, ярославль 150010, Российская Федерация Цель исследования.Изучить особенности и разнообразие спектра патогенных генетических вариантов гена CFTR (ABCC7) у российских пациентов с МВ, представленных в Регистре больных муковисцидозом (МВ) Российской Федерации (РФ) 2017г.Материал и методы.Проанализированы результаты генотипирования, включавшего анализ частых патогенных генетических вариантов, секвенирование кодирующей последовательности, поиск генных перестроек гена CFTR, 3096 больных из 81 региона-субъекта Российской Федерации, представленных в Регистре больных МВ в РФ 2017 г.Результаты.Выявлено 196 патогенных генетических вариантов гена CFTR.Суммарная доля 11 генетических вариантов c.1521_1523delCTT (F508del), c.54-5940_273+10250del21kb (CFTRdele2,3), c.274G>A (E92K), c.2012delT (2143delT), c.3718-2477C>T (3849+10kbC->T), c.3846G>A (W1282X), c.2052_2053insA (2184insA), c.1545_1546delTA (1677delTA), c.3909C>G (N1303K), c.1624G>T (G542X), c.413_415dupTAC (L138ins) составляет 75,6 %. 102 редких вариантов обнаружены однократно, 29 -дважды.Как в спектре, так и по частоте у пациентов в РФ преобладают варианты, приводящие к серьезным нарушениям функции белка CFTR (I, II, III классы).44 генетических варианта не внесены в базы CFTR1 и CFTR2.Заключение.На основании данных Регистра 2017 года определены спектр и относительные частоты патогенных вариантов последовательности гена CFTR у российских больных МВ; описано их распределение в зависимости от класса и типа.Выявлены генетические варианты, ранее не описанные в базах CFTR1 и CFTR2.Полученные результаты могут использоваться для оптимизации генетического консультирования и клинической работы с семьями, отягощенными МВ, а также для дальнейших исследований патогенетической значимости ранее не описанных генетических вариантов гена CFTR.

The aim of this study was to characterize chronic respiratory infection in cystic fibrosis (CF) patients in Russia according to the National Russian CF Register. Methods. The National Russian CF Register included 2,131 patients from 74 Russian regions (2,092 alive patients and 39 died patients) in 2014 (the median age, 10.2 (15.2) years; 29.2% were adults ≥ 18 лет). Microbiological findings of CF patients (chronic infection caused by Staphylococcus aureus, Pseudomonas aeruginosa, Stenotrophomonas maltophilia, Burkholderia cepacia соmplex, non-tuberculous mycobacteria (NTM), non-Pseudomonas Gram negative pathogens including Achromobacter spp., and frequency of intermittent P. aeruginosa infection) have been analyzed in this article. Results. The tested pathogens were not found in 18.0% of patients. The prevalence of pathogens in descending order was as follows: S. aureus, 54,5%; P. aeruginosa, (chronic infection), 32,1%; P. aeruginosa (intermittent infection), 14,1%; B. cepacia complex, 7,3%; Achromobacter spp., 3,5%; Stenotrophomonas maltophilia, 3,3%; NTM, 0,8%. Other non-Pseudomonas Gram negative pathogens including Achromobacter spp., Escherichia coli, Acinetobacter spp., Klebsiella spp., Citrobacter spp. caused chronic airway infection in 11.8% of patients. Children were infected more frequently by S. aureus and adult patients infected were frequently by P. aeruginosa, В.сepacia complex, Achromobacter spp., and NTM. No geographic prevalence of pathogen distribution was found. Russian CF patients were more often infected by S. aureus and B. cepacia complex compared to European CF patients. P. aeruginosa was yielded with equal rate in Russia and in Europe. S. maltophilia and NTM were found less frequently in Russia compared to Europe. Conclusion. According to the National Russian CF Register, the airways of 18.0% of CF patients in Russia are not colonized by respiratory pathogens. As the patient's age increases, the rate of Gram negative respiratory infection is growing. The most harmful infections are thought to be B. cepacia complex and Achromobacter spp.