Sex disparities in cystic fibrosis in the era of highly effective modulator treatment

被引：0
作者：
Emma McNally [1 ]
Michelle Casey [2 ]
机构：
[1] Department of Respiratory Medicine, Beaumont Hospital, Dublin
[2] Cystic Fibrosis Unit, Beaumont Hospital, Dublin
[3] Department of Medicine, Royal College of Surgeons in Ireland, Dublin
来源：
BMC Pulmonary Medicine | / 25卷 / 1期
关键词：
Cystic fibrosis; Disparity; Hormone; Modulator; Sex;
D O I：
10.1186/s12890-025-03621-0
中图分类号：
学科分类号：
摘要：
Cystic fibrosis (CF) is a genetic disorder characterized by progressive lung disease and extra-pulmonary manifestations with notable sex disparities in disease outcomes. In this review we summarize the underlying mechanisms driving this sex disparity, with a particular focus on the role of sex hormones on CF lung disease pathophysiology. We explore how the introduction of highly effective modulator therapies (HEMT) may impact sex differences in outcomes and assess whether they have the potential to close the sex gap. While treatment with HEMT has led to better outcomes in the CF population as a whole, females with CF continue to experience worse pulmonary morbidity than males. There is a need for continued research in this area, particularly into the influence and therapeutic potential of sex hormones. © The Author(s) 2025.
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共 101 条
[71]  
Taylor-Cousar J.L., Munck A., McKone E.F., van der Ent C.K., Moeller A., Simard C., Et al., Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del, N Engl J Med, 377, 21, pp. 2013-2023, (2017)
[72]  
Wainwright C.E., Elborn J.S., Ramsey B.W., Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR, N Engl J Med, 373, 18, pp. 1783-1784, (2015)
[73]  
Ramsey B.W., Davies J., McElvaney N.G., Tullis E., Bell S.C., Drevinek P., Et al., A CFTR potentiator in patients with cystic fibrosis and the G551D mutation, N Engl J Med, 365, 18, pp. 1663-1672, (2011)
[74]  
Heijerman H.G.M., McKone E.F., Downey D.G., Van Braeckel E., Rowe S.M., Tullis E., Et al., Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial, Lancet, 394, pp. 1940-1948, (2019)
[75]  
Middleton P.G., Mall M.A., Drevinek P., Lands L.C., McKone E.F., Polineni D., Et al., Elexacaftor-Tezacaftor-Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele, N Engl J Med, 381, 19, pp. 1809-1819, (2019)
[76]  
Sutharsan S., McKone E.F., Downey D.G., Duckers J., MacGregor G., Tullis E., 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, 10, 3, pp. 267-277, (2022)
[77]  
Raghavan D., Gao A., Ahn C., Kaza V., Finklea J., Torres F., Et al., Lung transplantation and gender effects on survival of recipients with cystic fibrosis, J Heart Lung Transplant, 35, 12, pp. 1487-1496, (2016)
[78]  
Holtrop M., Cosmich S., Lee M., Keller A., Jain R., Sex Differences Persist After Treatment With Ivacaftor in People With Cystic Fibrosis, Chest, (2024)
[79]  
Wang A., Lee M., Keller A., Jian S., Lowe K., Finklea J.D., Et al., Sex differences in outcomes of people with cystic fibrosis treated with elexacaftor/tezacaftor/ivacaftor, J Cyst Fibros, 23, 1, pp. 91-98, (2024)
[80]  
de Boer K., Vandemheen K.L., Tullis E., Doucette S., Fergusson D., Freitag A., Et al., Exacerbation frequency and clinical outcomes in adult patients with cystic fibrosis, Thorax, 66, 8, pp. 680-685, (2011)
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