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30 years of Research and Clinical Department of Cystic Fibrosis of the Academician N.P.Bochkov Federal Medical Genetic Academic Center

Abstract

In 2020, the Research and Clinical Department of Cystic Fibrosis of the Academician N.P.Bochkov Federal Medical Genetic Academic Center, Russian Academy of Science celebrates 30th anniversary from the start of its activities. The article demonstrates the main achievements in the organization of medical care for patients with cystic fibrosis in Russia.

About the Authors

S. I. Kutsev
Academician N.P.Bochkov Federal Medical Genetic Academic Center, Russian Academy of Science
Russian Federation

Sergey I. Kutsev - Doctor of Medicine, Professor, Corresponding Member of Russian Academy of Science, Director.

Ul. Moskvorech'e 1, Moscow, 1115478; tel.: (499) 612-86-07


Competing Interests: no


E. I. Kondratyeva
Academician N.P.Bochkov Federal Medical Genetic Academic Center, Russian Academy of Science
Russian Federation

Elena I. Kondrat'eva - Doctor of Medicine, Professor, Head of Research and Clinical Division of Cystic Fibrosis.

Ul. Moskvorech'e 1, Moscow, 1115478; tel.: (495)587-33-66

Competing Interests: no


References

1. Kapranov N.I., Kashirskaya N.Yu., eds. Cystic fibrosis. Moscow: Medpraktika-M; 2014 (in Russian).

2. Sherman V., Kondratyeva E., Kashirskaya N. et al. Newborn screening for cystic fibrosis in Russia: a catalyst for improved care. Int. J. Neonatal Screen. 2020; 6 (2): 34. DOI: 10.3390/ijns6020034.

3. Amelina E.L., Kashirskaya N.Yu., Kondrat'eva E.I. et al., eds. [Register of cystic fibrosis patients in the Russian Federation. 2018 year]. Moscow: Medpraktika-M; 2020 (in Russian).

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7. Shadrina V.V., Kondrat'eva E.I., Furman E.G. et al. [Basic clinicolaboratory and genetic characteristic of patients with mucoviscidosis living in Perm krai, other regions of Privolzhsky federal district and Central federal district of Russia]. Permskiy meditsinskiy zhurnal. 2020; 37 (1): 48–62. DOI: 10.17816/pmj37148-62 (in Russian).

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13. Kondrat'eva E.I., Sherman V.D., Amelina E.L. et al. [Clinical and genetic characteristics and outcomes of meconium ileus in cystic fibrosis]. Rossiyskiy vestnik perinatologii i pediatrii. 2016; 61 (6): 77–81. DOI: 10.21508/1027-4065-2016-61-6-77-81 (in Russian).

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15. Kondrat'eva E.I., Kashirskaya N.Yu., Kapranov N.I., сoord. [National Consensus “Cystic Fibrosis: Definition, Diagnostic Criteria, Therapy”]. Moscow; 2016. Available at: http://ostrovaru.com/biblioteka/Chiesi_consensus_new_A4.pdf (in Russian).

16. Kondrat'eva E.I., Mel'yanovskaya Yu.L., Sherman V.D. et al. [Functional methods of diagnosing disorders of the CFTR gene and its product]. Voprosy prakticheskoy pediatrii. 2018; 13 (4): 50–64. DOI: 10.20953/1817-7646-2018-4-50-64 (in Russian).

17. Kondrat'eva E.I., Mel'yanovskaya Yu.L., Efremova A.S. et al. [Clinical and genetic features of cystic fibrosis patients with novel pathogenic variant CFTR c.1083G> A (p.Trp361*) and functional assessment of the activity of the chloride channel]. Meditsinskaya genetika. 2019; 18 (9): 9–18. DOI: 10.25557/2073-7998.2019.09.9-18 (in Russian).

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19. Petrova N.V., Kashirskaya N.Y., Saydaeva D.K. et al. Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus. BMC Med. Genet. 2019; 20: 44. DOI: 10.1186/s12881-019-0785-z.

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21. Kondrat'eva E.I., Petrova N.V., Krasovskiy S.A. et al. [Cystic fibrosis phenotype with the complex allele s466x-r1070q in Russian Federation]. Pul'monologiya. 2017; 27 (6): 695–703. DOI: 10.18093/0869-0189-2017-27-6-695-703 (in Russian).

22. Kondrat'eva E.I., Mel'yanovskaya Yu.L., Efremova A.S. et al. [Experience of evaluating functionality of anionic CFR channel methods application in patients with cystic fibrosis diagnosed and suspected]. Sibirskoe meditsinskoe obozrenie. 2019; 2 (116): 60–69 (in Russian).

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24. Kondrat'eva E.I., Maksimycheva T.Yu., Portnov N.M. et al. [First results of using a computer programme “Monitoring of nutritional status, dietary intake and enzyme therapy in cystic fibrosis”]. Voprosy detskoy dietologii. 2016; 14 (6): 5–12. DOI: 10.20953/1727-5784-2016-6-5-12 (in Russian).

25. Maksimycheva T.Yu., Kondrat'eva E.I., Sorvacheva T.N. et al. [Dietary intake of children with cystic fibrosis]. Voprosy pitaniya. 2020; 89 (1): 28–36. DOI: 10.24411/0042-8833-2020-10003 (in Russian).

26. Maksimycheva T.Yu., Kondrat'eva E.I., Sorvacheva T.N., Evdokimova T.A. [Rationale for adequate enzyme replacement therapy for children with cystic fibrosis: a cross-sectional study]. Farmateka. 2020; 27 (1): 59–64 (in Russian).

27. Il'enkova N.A., Klimov L.Ya., Zhekayte E.K. et al. [Vitamin D provision among children with cystic fibrosis in the Russian Federation during winter time]. Sibirskoe meditsinskoe obozrenie. 2019; (2): 29–36. DOI: 10.20333/2500136-2019-2-29-36 (in Russian).

28. Kondrat'eva E.I., Zhekayte E.K., Odinaeva N.D. et al. [Dynamics of indicators of vitamin D status in children cystic fibrosis of the Moscow region for 2016–2018.]. Voprosy pitaniya. 2020; 89 (2): 90–99 (in Russian).

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31. Polikarpova S.V., Kondrat'eva E.I., Shabalova L.A. et al. [Microflora of the respiratory tract in patients with cystic fibrosis and sensitivity to antibiotics based on a 15-year follow-up (2000 – 2015)]. Meditsinskiy sovet. 2016; (15): 84–89. DOI: 10.21518/2079-701X-2016-15-84-89 (in Russian).

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33. Novoselova O.G., Petrova N.V., Kondrat'eva E.I. et al. [Influence of genes polymorphism of the 1st phase of xenobiotic metabolism on antibacterial therapy efficacy in patients with cystic fibrosis homozygous for F508DEL mutation of CFTR gene]. Pediatriya. Zhurnal im. G.N.Speranskogo. 2018; 97 (2): 94–98. DOI: 10.24110/0031-403X-2018-97-2-94-98 (in Russian).

34. Kondrat'eva E.I., Kondakova Yu.A., Zyryanov S.K. et al. [Age peculiarities of pharmacotherapy with amoxicillin preparation in children with cystic fibrosis]. Pediatriya. Zhurnal im. G.N.Speranskogo. 2019; 98 (4): 179–188. DOI: 10.24110/0031-403X-2019-98-4-179-188 (in Russian).

35. Kondratyeva E.I., Kondakova Yu.A., Kostyuk S.V. et al. Extracellular DNA and plasma nuclease activity effect on the course of the microbial inflammatory process in the process in the respiratory tract in cystic fibrosis. J. Bioinformatics and Genomics. 2018; 3 (8). DOI: 10.18454/jbg.2018.3.8.2.


Review

For citations:


Kutsev S.I., Kondratyeva E.I. 30 years of Research and Clinical Department of Cystic Fibrosis of the Academician N.P.Bochkov Federal Medical Genetic Academic Center. PULMONOLOGIYA. 2020;30(3):367-374. (In Russ.)

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