Fibrosis quística

Referencias

1. Ratjen F, Bell SC, Rowe SM, Goss CH, Quittner AL, Bush A. Cystic fibrosis. Nat Rev Dis Primers 2015; 1:15010.

2. Stoltz DA, Meyerholz DK, Welsh MJ. Origins of cystic fibrosis lung disease. N Engl J Med 2015; 372:351-62.

3. Stephenson AL, Swaleh S, Sykes J, et al. Contemporary cystic fibrosis incidence rates in Canada and the United States. J Cyst Fibros 2023; 22:443-9.

4. The Clinical and Functional TRanslation of CFTR (CFTR2). US CF Foundation, Johns Hopkins University, The Hospital for Sick Children, 2011 (https://cftr2.org).

5. Cystic Fibrosis Foundation patient registry 2021 annual data report. Bethesda, MD: Cystic Fibrosis Foundation, 2022 (https://www.cff.org/sites/default/files/ 2021-11/Patient-Registry-Annual-Data -Report.pdf).

6. McGarry ME, McColley SA. Cystic fibrosis patients of minority race and ethnicity less likely eligible for CFTR modulators based on CFTR genotype. Pediatr Pulmonol 2021; 56:1496-503.

7. Despotes KA, Donaldson SH. Current state of CFTR modulators for treatment of cystic fibrosis. Curr Opin Pharmacol 2022; 65:102239.

8. Ensinck MM, Carlon MS. One size does not fit all: the past, present and future of cystic fibrosis causal therapies. Cells 2022; 11:1868.

9. Saint-Criq V, Gray MA. Role of CFTR in epithelial physiology. Cell Mol Life Sci 2017; 74:93-115.

10. Zhou-Suckow Z, Duerr J, Hagner M, Agrawal R, Mall MA. Airway mucus, inflammation and remodeling: emerging links in the pathogenesis of chronic lung diseases. Cell Tissue Res 2017; 367:537-50.

11. Montgomery ST, Dittrich AS, Garratt LW, et al. Interleukin-1 is associated with inflammation and structural lung disease in young children with cystic fibrosis. J Cyst Fibros 2018;17:715-22.

12. Li X, Tang XX, Vargas Buonfiglio LG, et al. Electrolyte transport properties in distal small airways from cystic fibrosis pigs with implications for host defense. Am J Physiol Lung Cell Mol Physiol 2016; 310: L670-L679.

13. Pezzulo AA, Tang XX, Hoegger MJ, et al. Reduced airway surface pH impairs bacterial killing in the porcine cystic fibrosis lung. Nature 2012; 487:109-13.

14. Donaldson SH, Laube BL, Corcoran TE, et al. Effect of ivacaftor on mucociliary clearance and clinical outcomes in cystic fibrosis patients with G551D-CFTR. JCI Insight 2018;3(24): e122695.

15. Nichols DP, Morgan SJ, Skalland M, et al. Pharmacologic improvement of CFTR function rapidly decreases sputum pathogen density, but lung infections generally persist. J Clin Invest 2023;133(10): e167957.

16. Tewkesbury DH, Athwal V, Bright Thomas RJ, Jones AM, Barry PJ. Longitudinal effects of elexacaftor/tezacaftor/ ivacaftor on liver tests at a large single adult cystic fibrosis centre. J Cyst Fibros 2023; 22:256-62.

17. Ramsey BW, Davies J, McElvaney NG, et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med 2011; 365:1663-72.

18. Middleton PG, Mall MA, Dřevínek P, et al. Elexacaftor–tezacaftor–ivacaftor for cystic fibrosis with a single Phe508del allele. N Engl J Med 2019; 381:1809-19.

19. Szentpetery S, Foil K, Hendrix S, et al. A case report of CFTR modulator administration via carrier mother to treat meconium ileus in a F508del homozygous fetus. J Cyst Fibros 2022; 21:721-4.

20. Steinack C, Ernst M, Beuschlein F, et al. Improved glucose tolerance after initiation of Elexacaftor / Tezacaftor / Ivacaftor in adults with cystic fibrosis. J Cyst Fibros 2023;22:722-9.

21. Sun X, Yi Y, Yan Z, et al. In utero and postnatal VX-770 administration rescues multiorgan disease in a ferret model of cystic fibrosis. Sci Transl Med 2019; 11(485): eaau7531.

22. Taylor-Cousar JL, Shteinberg M, Cohen Cymberknoh M, Jain R. The impact of highly effective cystic fibrosis transmembrane conductance regulator modulators on the health of female subjects with cystic fibrosis. Clin Ther 2023; 45:278-89.

23. Ooi CY, Dorfman R, Cipolli M, et al. Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis. Gastroenterology 2011; 140:153-61.

24. Alves C, Della-Manna T, Albuquerque CTM. Cystic fibrosis-related diabetes: an update on pathophysiology, diagnosis, and treatment. J Pediatr Endocrinol Metab 2020; 33:835-43.

25. Vélez C, Freedman SD, Assis DN. Update in advancing the gastrointestinal frontier in cystic fibrosis. Clin Chest Med 2022; 43:743-55.

26. Rehani MR, Marcus MS, Harris AB, Farrell PM, Ren CL. Variation in cystic fibrosis newborn screening algorithms in the United States. Pediatr Pulmonol 2023; 58:927-33.

27. Currier RJ, Sciortino S, Liu R, Bishop T, Alikhani Koupaei R, Feuchtbaum L. Genomic sequencing in cystic fibrosis newborn screening: what works best, two-tier predefined CFTR mutation panels or second-tier CFTR panel followed by third-tier sequencing? Genet Med 2017; 19:1159-63.

28. Munck A, Mayell SJ, Winters V, et al. Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): a new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening. J Cyst Fibros 2015; 14:706-13.

29. Farrell PM, White TB, Ren CL, et al. Diagnosis of cystic fibrosis: consensus guidelines from the Cystic Fibrosis Foundation. J Pediatr 2017;181: Suppl: S4-S15.e1.

30. Bombieri C, Claustres M, De Boeck K, et al. Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros 2011;10: Suppl 2: S86-S102.

31. Ramalho AS, Boon M, Proesmans M, Vermeulen F, Carlon MS, Boeck K. Assays of CFTR function in vitro, ex vivo and in vivo. Int J Mol Sci 2022; 23:1437.

32. Bell SC, Mall MA, Gutierrez H, et al. The future of cystic fibrosis care: a global perspective. Lancet Respir Med 2020; 8:65- 124. 3

3. Accurso FJ, Rowe SM, Clancy JP, et al. Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. N Engl J Med 2010; 363:1991-2003.

34. Grasemann H, Ratjen F, Solomon M. Aquagenic wrinkling of the palms in a patient with cystic fibrosis. N Engl J Med 2013; 369:2362-3.

35. Grasemann H, Klingel M, Avolio J, et al. Long-term effect of CFTR modulator therapy on airway nitric oxide. Eur Respir J 2020; 55:1901113.

36. Wainwright CE, Elborn JS, Ramsey BW, et al. Lumacaftor-ivacaftor in patients with cystic fibrosis homozygous for Phe508del CFTR. N Engl J Med 2015;373: 220-31.

37. Rowe SM, Daines C, Ringshausen FC, et al. Tezacaftor–ivacaftor in residual function heterozygotes with cystic fibrosis. N Engl J Med 2017; 377:2024-35.

38. Taylor-Cousar JL, Munck A, McKone EF, et al. Tezacaftor–ivacaftor in patients with cystic fibrosis homozygous for Phe508del. N Engl J Med 2017;377:2013- 23.

39. Grasemann H. CFTR modulator therapy for cystic fibrosis. N Engl J Med 2017; 377:2085-8.

40. Keating D, Marigowda G, Burr L, et al. VX-445–tezacaftor-ivacaftor in patients with cystic fibrosis and one or two Phe508del alleles. N Engl J Med 2018; 379:1612-20.

41. Barry PJ, Mall MA, Álvarez A, et al. Triple therapy for cystic fibrosis Phe508del– gating and –residual function genotypes. N Engl J Med 2021; 385:815-25.

42. Sutharsan S, McKone EF, Downey DG, et al. Efficacy and safety of elexacaftor plus tezacaftor plus ivacaftor versus tezacaftor plus ivacaftor in people with cystic fibrosis homozygous for F508del-CFTR: a 24-week, multicentre, randomised, double-blind, active-controlled, phase 3b trial. Lancet Respir Med 2022; 10:267-77.

43. List of CFTR gene mutations that are responsive to Trikafta (elexacaftor/tezacaftor/ivacaftor). Cystic Fibrosis Foundation (https://www.cff.org/sites/default/files/ 2022-02/Trikafta-Approved-Mutations.pdf).

44. Raraigh KS, Lewis MH, Collaco JM, et al. Caution advised in the use of CFTR modulator treatment for individuals harboring specific CFTR variants. J Cyst Fibros 2022;21:856-60.

45. Sahakyan Y, Abrahamyan L, Ratjen F, et al. Cost-effectiveness analysis of genetic tools to predict treatment response in patients with cystic fibrosis. J Cyst Fibros 2023 April 24 (Epub ahead of print).

46. Grasemann H, Ratjen F. Early lung disease in cystic fibrosis. Lancet Respir Med 2013; 1:148-57.

47. Goralski JL, Hoppe JE, Mall MA, et al. Phase 3 open-label study of elexacaftor/ tezacaftor/ivacaftor in children aged 2 through 5 years with cystic fibrosis and at least one F508del allele. Am J Respir Crit Care Med 2023; 208:59-67.

48. Flume PA, Mogayzel PJ Jr, Robinson KA, et al. Cystic fibrosis pulmonary guidelines: treatment of pulmonary exacerbations. Am J Respir Crit Care Med 2009; 180:802-8.

49. Flume PA, Robinson KA, O’Sullivan BP, et al. Cystic fibrosis pulmonary guidelines: airway clearance therapies. Respir Care 2009; 54:522-37.

50. Yang C, Montgomery M. Dornase alfa for cystic fibrosis. Cochrane Database Syst Rev 2021;3:CD001127.

51. Elkins MR, Robinson M, Rose BR, et al. A controlled trial of long-term inhaled hypertonic saline in patients with cystic fibrosis. N Engl J Med 2006;354: 229-40.

52. Tiddens HAWM, Chen Y, Andrinopoulou E-R, et al. The effect of inhaled hypertonic saline on lung structure in children aged 3-6 years with cystic fibrosis (SHIP-CT): a multicentre, randomised, double-blind, controlled trial. Lancet Respir Med 2022; 10:669-78.

53. Ratjen F, Davis SD, Stanojevic S, et al. Inhaled hypertonic saline in preschool children with cystic fibrosis (SHIP): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet Respir Med 2019; 7:802-9.