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Список литературы

  1. De Boeck, K. Cystic fibrosis in the year 2020: disease with a new face / K. De Boeck. – DOI: 10.1111/apa.15155 // Acta paediatrica. – 2020. – Vol. 109, № 5. – P. 893–899.
  2. Lopes-Pacheco, M. CFTR modulators: Shedding light on precision medicine for cystic fibrosis / M. Lopes-Pacheco. – DOI: 10.3389/fphar.2016.00275 // Frontiers in pharmacology. – 2016. – Vol. 7. – P. 275.
  3. Муковисцидоз. Регистр больных муковисцидозом в Российской Федерации. 2019 год / под ред. Н. Ю. Каширской, Е. И. Кондратьевой, С. А. Красовского [и др.]. – Москва : МЕДПРАКТИКА-М, 2021. – 68 с.
  4. Национальный консенсус «Муковисцидоз: определение, диагностические критерии, терапия» (2-й выпуск) [Проект] / Под редакцией Е. И. Кондратьевой, Н. Ю. Каширской, Н. И. Капранова ; Российское общество медицинских генетиков, Российское респираторное общество, Союз педиатров России. – Москва : Компания БОРГЕС, 2019. – 356 с.
  5. ECFS best practice guidelines: the 2018 revision / C. Castellani, A. J. A. Duff, S. C. Bell [et al.]. – DOI: 10.1016/j.jcf.2018.02.006 // Journal of cystic fibrosis. – 2018. – Vol. 17, № 2. – P. 153–178.
  6. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report / P. M. Farrell, B. J. Rosenstein, T. B. White [et al.]. – DOI: 10.1016/j.jpeds.2008.05.005 // The Journal of pediatrics. – 2008. – Vol. 153, № 2. – P. S4–S14.
  7. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology / S. Richards, N. Aziz, S. Bale [et al.]. – DOI: 10.1038/gim.2015.30 // Genetics in medicine. – 2015. – Vol. 17, № 5. – P. 405–424.
  8. Клинические рекомендации. Кистозный фиброз (муковисцидоз). 2021. – URL: https://cr.minzdrav.gov.ru/recomend/372_2 (дата обращения: 20.02.2022). – Текст : электронный.
  9. Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules / N. Baatallah, S. Bitam, N. Martin [et al.]. – DOI: 10.1002/humu.23389 // Human mutation. – 2018. – Vol. 39, № 4. – P. 506–514.
  10. Diagnostic approaches to apparent homozygosity / M. L. Landsverk, G. V. Douglas, S. Tang [et al.]. – DOI: 10.1038/gim.2012.58 // Genetics in medicine. – 2012. – Vol. 14, № 10. – P. 877–882.
  11. Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion / F. M. Hantash, A. Rebuyon, M. Peng [et al.]. – DOI: 10.2353/jmoldx.2009.080117// The Journal of molecular diagnostics. – 2009. – Vol. 11, № 3. – P. 253–256.
  12. Allele dropout in polar bodies and blastomeres / S. Rechitsky, C. Strom, O. Verlinsky [et al.]. – DOI: 10.1023/a:1022532108472 // Journal of assisted reproduction and genetics. – 1998. – Vol. 15, № 5. – P. 253–257.
  13. Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene / F. M. Hantash, J. B. Redman, D. Goos [et al.]. – DOI: 10.2353/jmoldx.2007.060141 // The Journal of molecular diagnostics. – 2007. – Vol. 9, № 4. – P. 556–560.
  14. Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening / F. M. Hantash, J. B. Redman, K. Starn [et al.]. – DOI: 10.1007/s00439-005-0082-0 // Human genetics. – 2006. – Vol. 119, № 1-2. – P. 126–136.
  15. Dekkers, J. F. Novel opportunities for CFTR-targeting drug development using organoids /J. F. Dekkers, C. K. van der Ent, J. M. Beekman. – DOI: 10.4161/rdis.27112 // Rare diseases. – 2013. – Vol. 1. – P. e27112.
  16. Forskolin-induced swelling in intestinal organoids: an in vitro assay for assessing drug response in cystic fibrosis patients / S. F. Boj, A. M. Vonk, M. Statia [et al.]. – DOI: 10.3791/55159// Journal of visualized experiments. – 2017. – Vol. 120. – P. 55159.
  17. Characterizing responses to CFTR-modulating drugs using rectal organoids derived from subjects with cystic fibrosis / J. F. Dekkers, G. Berkers, E. Kruisselbrink [et al.]. – DOI: 10.1126/scitranslmed.aad8278 // Science translational medicine. – 2016. – Vol. 8, № 344. – P. 344ra384.
  18. Protocol for Application, Standardization and Validation of the Forskolin-Induced Swelling Assay in Cystic Fibrosis Human Colon Organoids / A. M. Vonk, P. van Mourik, A. S. Ramalho [et al.]. – DOI: 10.1016/j.xpro.2020.100019 // STARProtocols. – 2020. – Vol. 1, № 1. – P. 100019.
  19. Connett, G. J. Lumacaftor-ivacaftor in the treatment of cystic fibrosis: design, development and place in therapy / G. J. Connett. – DOI: 10.2147/DDDT.S153719 // Drug design, development and therapy. – 2019. – Vol. 13. – P. 2405–2412.
  20. Rectal Organoids Enable Personalized Treatment of Cystic Fibrosis / G. Berkers, P. van Mourik, A. M. Vonk [et al.]. – DOI: 10.1016/j.celrep.2019.01.068 // Cell reports. – 2019. – Vol. 26,№ 7. – P. 1701.e3–1708.e3.
  21. Correctors (specific therapies for class II CFTR mutations) for cystic fibrosis / K. W. Southern, S. Patel, I. P. Sinha, S. J. Nevitt. – DOI: 10.1002/14651858.CD010966.pub2 // Cochrane database of systematic reviews. – 2018. – Vol. 8, № 8. – CD010966.
  22. Кондратьева Е.И., Мельяновская Ю.Л., Ефремова А.С., Булатенко Н.В., Бухарова Т.Б., Гольдштейн Д.В., Зодьбинова А.Э., Никонова В.С., Жекайте Е.К., Каширская Н.Ю., Мелконян Г.Г., Одинаева Н.Д., Куцев С.И. Опыт применения методов оценкифункциональностианионного канала CFTR у пациентов с установленным и предполагаемым диагнозом муковисцидоза. DOI: 10.20333/2500136-2019-2-60-69 Сибирское медицинское обозрение. 2019;(2):60-69.
  23. Efficacy and Safety of CFTR Corrector and Potentiator Combination Therapy in Patients with Cystic Fibrosis for the F508del-CFTR Homozygous Mutation: A Systematic Review and Meta-analysis / H. X. Wu, M. Zhu, X. F. Xiong [et al.]. – DOI: 10.1007/s12325-018-0860-4 // Advances in therapy. – 2019. – Vol. 36, № 2. – P. 451–461.
  24. Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR /C. E. Wainwright, J. S. Elborn, B. W. Ramsey [et al.]. – DOI: 10.1056/NEJMoa1409547 // The New England journal of medicine. – 2015. – Vol. 373, № 3. – P. 220–231.
  25. Lumacaftor/ivacaftor in patients with cystic fibrosis and advanced lung disease homozygous for F508del-CFTR / J. L. Taylor-Cousar, M. Jain, T. Lynn [et al.]. – DOI: 10.1016/j.jcf.2017.09.012 // Journal of cystic fibrosis. – 2018. – Vol. 17, № 2. – P. 228–235.
  26. Pharmacokinetic interactions between ivacaftor and cytochrome P450 3A4 inhibitors in people with cystic fibrosis and healthy controls / R. van der Meer, E. B. Wilms, R. Sturm, H. G. M. Heijerman. – DOI: 10.1016/j.jcf.2021.04.005 // Journal of cystic fibrosis. – 2021. – Vol. 20, № 5. –P. E72–E76.
  27. Trikafta- elexacaftor, tezacaftor, and ivacaftor kit // Daily Med : [website]. – URL: https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=f354423a-85c2-41c3-a9db- 0f3aee135d8d (date of access: 08.04.2022). – Text : electronic.
  28. A Review of Trikafta: Triple Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulator Therapy / A. Zaher, J. ElSaygh, D. Elsori [et al.]. – DOI: 10.7759/cureus.16144// Cureus. – 2021. – Vol. 13, № 7. – P. e16144.
  29. Tezacaftor // PubChem : [website]. – URL: pubchem.ncbi.nlm.nih.gov (date of access: 08.04.2022). – Text : electronic.
  30. FDA Approves Expansion of Modulators for People With Certain Rare Mutations // Cystic Fibrosis Foundation:[website].–URL: https://www.cff.org/news/2020-12/fda-approves-expansion-modulators-people-certain-rare-mutations (date of access: 08.04.2022). – Text : electronic.
  31. Элексафактор + Тезакафтор + Ивакафтор // Medum.ru : [сайт]. – URL: https://medum.ru/ehleksafaktor-tezakaftor-ivakaftor (дата обращения: 28.03.2022). – Текст : электронный.
  32. Trikafta Side Effects // Drugs.com : [website]. – URL: https://www.drugs.com/sfx/trikafta- side-effects.html (date of access: 03.10.2021). – Text : electronic.
  33. Амелина, Е. Л. Муковисцидоз и беременность: клинико-генетические, функциональные и микробиологические характеристики пациенток / Е. Л. Амелина, С. А. Красовский, И. О. Шугинин // Педиатрия. Журнал им. Г.Н. Сперанского. – 2014. – Т. 93, № 4. – С. 38–43.
  34. Reduced bone density in cystic fibrosis: DeltaF508 mutation is an independent risk factor /S. L. King, D. J. Topliss, T. Kotsimbos [et al.]. – DOI: 10.1183/09031936.04.00050204 // The European respiratory journal. – 2005. – Vol. 25, № 1. – C. 54–61.
  35. Rowe, S. M. Cystic fibrosis / S. M. Rowe, S. Miller, E. J. Sorscher. – DOI: 10.1056/NEJMra043184 // The New England journal of medicine. – 2005. – Vol. 352, № 19. – P. 1992–2001.
  36. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770 / F. Van Goor, S. Hadida, P. D. Grootenhuis [et al.]. – DOI: 10.1073/pnas.0904709106 // Proceedings of the National Academy of Sciences of the United States of America. – 2009. – Vol. 106, № 44. – P. 18825–18830.
  37. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation / B. W. Ramsey, J. Davies, N. G. McElvaney [et al.]. – DOI: 10.1056/NEJMoa1105185 // The New England journal of medicine. – 2011. – Vol. 365, № 18. – P. 1663–1672.
  38. Cystic fibrosis transmembrane conductance regulator (CFTR) potentiator VX-770 (ivacaftor) opens the defective channel gate of mutant CFTR in a phosphorylation-dependent but ATP-independent manner / P. D. Eckford, C. Li, M. Ramjeesingh [et al.]. – DOI: 10.1074/jbc.M112.393637 // The Journal of biological chemistry. – 2012. – Vol. 287, № 44. – P. 36639–36649.
  39. Rowe, S. M. Cystic fibrosis transmembrane regulator correctors and potentiators / S. M. Rowe, A. S. Verkman. – DOI: 10.1101/cshperspect.a009761 // Cold Spring Harbor perspectives in medicine. – 2013. – Vol. 3, № 7. – P. a009761.
  40. Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation / F. J. Accurso, S. M. Rowe, J. P. Clancy [et al.]. – DOI: 10.1056/NEJMoa0909825 // The New England journal of medicine. – 2010. – Vol. 363, № 21. – P. 1991–2003.
  41. Tezacaftor-ivacaftor in patients with cystic fibrosis homozygous for Phe508del / J. L. Taylor-Cousar, A. Munck, E. F. McKone [et al.]. – DOI: 10.1056/NEJMoa1709846 // The New England journal of medicine. – 2017. – Vol. 377, № 21. – P. 2013–2023.
  42. Trikafta : [website]. – URL: https://www.trikafta.com/study-information (date of access: 08.04.2022). – Text : electronic.
  43. Elexacaftor-Tezacaftor-Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele / P. G. Middleton, M. A. Mall, P. Dřevínek [et al.]. – DOI: 10.1056/NEJMoa1908639 // The New England journal of medicine. – 2019. – Vol. 381, № 19. – P. 1809–1819.
  44. Effects of ivacaftor in three pediatric siblings with cystic fibrosis carrying the mutations G551D and F508del / J. G. Mainz, C. Arnold, J. Hentschel, H. Tabori. – DOI: 10.1016/j.arbres.2017.09.012 // Archivos de bronconeumologia. – 2018. – Vol. 54, № 4. – P. 232– 234.
  45. Time for a gut check: Pancreatic sufficiency resulting from CFTR modulator use / R. Megalaa, V. Gopalareddy, E. Champion, J. L. Goralski. – DOI: 10.1002/ppul.24353 // Pediatric pulmonology. – 2019. – Vol. 54, № 8. – P. e16–e18.
  46. Restoration of exocrine pancreatic function in older children with cystic fibrosis on ivacaftor / A. L. Nichols, J. C. Davies, D. Jones, S. B. Carr. – DOI: 10.1016/j.prrv.2020.04.003 // Paediatric respiratory reviews. – 2020. – Vol. 35. – P. 99–102.
  47. Effect of one-year lumacaftor–ivacaftor treatment on glucose tolerance abnormalities in cystic fibrosis patients / B. Misgault, E. Chatron, Q. Reynaud [et al.]. – DOI: 10.1016/j.jcf.2020.03.002 // Journal of cystic fibrosis. – 2020. – Vol. 19, № 5. – P. 712–716.
  48. Effect of CFTR modulators on anthropometric parameters in individuals with cystic fibrosis: an evidence analysis center systematic review / J. Bailey, M. Rozga, C. M. McDonald [et al.]. – DOI: 10.1016/j.jand.2020.03.014 // Journal of the Academy of Nutrition and Dietetics. – 2021. – Vol. 121, № 7. – P. 1364.e2–1378.e2.
  49. Symdeko : [website]. – URL: https://www.symdeko.com (date of access: 08.04.2022). – Text : electronic.
  50. Symkevi // European medical agency : [website]. – URL: https://www.ema.europa.eu/en/medicines/human/EPAR/symkevi (date of access: 08.04.2022). – Text : electronic.
  51. FDA : [website]. – URL: https://www.fda.gov (date of access: 08.04.2022). – Text : electronic.
  52. Kaftrio// Europeanmedicalagency : [website].– URL: https://www.ema.europa.eu/en/medicines/human/EPAR/kaftrio (date of access: 08.04.2022). – Text: electronic.

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