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囊性纤维化跨膜传导调节因子调节剂在孕期的应用:为新生儿、儿科及助产团队提供的新信息

Use of CFTR modulators in pregnancy: new information for neonatal, paediatrics and midwifery teams.

作者信息

Khan Haji Sheeraz, Tran Paula

机构信息

Hull University Teaching Hospitals NHS Trust Paediatrics, Hull, UK

Hull Royal Infirmary.

出版信息

Arch Dis Child Fetal Neonatal Ed. 2025 Feb 21;110(2):118-121. doi: 10.1136/archdischild-2024-327678.

Abstract

Cystic fibrosis (CF) is common, multisystem, life-limiting genetic condition, predominantly in the Caucasian population. There have been recent advances in the management of CF, in particular in the last 5 years following approval of cystic fibrosis transmembrane conductance regulator (CFTR) protein modulators by the National Health Service (NHS) for use in people with CF (pwCF).Traditionally, almost 40% of female patients with CF (fwCF) and over 95% of male patients with CF (mwCF) have issues with subfertility or infertility. CFTR modulators have transformed the lives of pwCF who have the specific genetic variants that respond to the treatment.Women taking CFTR modulators, particularly highly effective CFTR modulators (elexacaftor, tezacaftor and ivacaftor), have shown resolution of infertility and successful pregnancies without fertility treatment. At present male patients taking CFTR modulators have not shown improvement in infertility. Unplanned pregnancies are on the increase in fwCF. fwCF have had significantly improved general health when taking CFTR modulators. Subsequently many fwCF now become pregnant and choose to continue their pregnancies to term, with positive outcomes.Clinical and biochemical status of the newborn babies with CF, who are born to fwCF on CFTR modulators, can be very different when compared with the other babies with CF who are unexposed to CFTR modulators in utero.New opportunities bring new challenges. This review highlights how infants exposed to CFTR modulators in utero can be affected, and suggests how they should be monitored.

摘要

囊性纤维化(CF)是一种常见的、多系统的、危及生命的遗传性疾病,主要发生在白种人群中。近年来,CF的治疗取得了进展,特别是在过去5年里,英国国家医疗服务体系(NHS)批准囊性纤维化跨膜传导调节因子(CFTR)蛋白调节剂用于CF患者(pwCF)之后。传统上,近40%的女性CF患者(fwCF)和超过95%的男性CF患者(mwCF)存在生育力低下或不育问题。CFTR调节剂改变了具有对该治疗有反应的特定基因变异的pwCF的生活。服用CFTR调节剂的女性,尤其是高效CFTR调节剂(依列卡福、替扎卡福和依伐卡福)的女性,在未经生育治疗的情况下显示出不育问题得到解决且成功怀孕。目前,服用CFTR调节剂的男性患者的不育问题尚未显示出改善。fwCF的意外怀孕情况正在增加。fwCF在服用CFTR调节剂时总体健康状况有显著改善。随后,许多fwCF现在怀孕并选择继续妊娠至足月,结果良好。与子宫内未接触CFTR调节剂的其他CF婴儿相比,在CFTR调节剂治疗下出生的fwCF所生的CF新生儿的临床和生化状况可能有很大不同。新机遇带来新挑战。本综述强调了子宫内接触CFTR调节剂的婴儿可能受到的影响,并提出了对他们进行监测的建议。

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