Jain Raksha, Taylor-Cousar Jennifer L
Internal Medicine, Pulmonary and Critical Care, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
National Jewish Health, Internal Medicine and Pediatrics, Pulmonary, Denver, CO 80206, USA.
J Pers Med. 2021 May 15;11(5):418. doi: 10.3390/jpm11050418.
Cystic fibrosis (CF) is an autosomal recessive genetic disorder impacting approximately 80,000 people of all races and ethnicities world-wide. CF is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene which encodes a protein of the same name. Protein dysfunction results in abnormal chloride and bicarbonate transport in mucus membranes, including those in the respiratory, gastrointestinal and reproductive tracts. Abnormal anion transport causes viscous secretions at the site of involvement. The majority of people with CF succumb to respiratory failure following recurrent cycles of infection and inflammation in the airways. Historically, providers treated the signs and symptoms of CF, but since 2012, have been able to impact the basic defect for the subset of people with CF who have mutations that respond to the new class of drugs, CFTR protein modulators. With the improved health and longevity afforded by CFTR modulators, more women are interested in parenthood and are becoming pregnant. Furthermore, this class of drugs likely increases fertility in women with CF. However, the safety of CFTR modulators in pregnancy and lactation is only beginning to be established. We summarize available data on the impact of CFTR modulators on fertility, pregnancy and lactation in women with CF.
囊性纤维化（CF）是一种常染色体隐性遗传病，影响着全球约8万名所有种族和族裔的人群。CF是由囊性纤维化跨膜传导调节因子（CFTR）基因突变引起的，该基因编码一种同名蛋白质。蛋白质功能障碍导致包括呼吸道、胃肠道和生殖道在内的粘膜中氯化物和碳酸氢盐运输异常。异常的阴离子运输会在受累部位产生粘稠分泌物。大多数CF患者在气道反复感染和炎症发作后死于呼吸衰竭。从历史上看，医疗人员治疗CF的体征和症状，但自2012年以来，对于CF患者中具有对新型药物CFTR蛋白调节剂有反应的突变的那部分人，已经能够影响其基本缺陷。随着CFTR调节剂带来的健康改善和寿命延长，越来越多的女性对生育感兴趣并怀孕。此外，这类药物可能会提高CF女性的生育能力。然而，CFTR调节剂在妊娠和哺乳期的安全性才刚刚开始确立。我们总结了关于CFTR调节剂对CF女性生育、妊娠和哺乳影响的现有数据。
