Prenatal Cystic Fibrosis Transmembrane Conductance Regulator Modulator Therapy: A Promising Way to Change the Impact of Cystic Fibrosis.

Autor:	Gómez-Montes E; Fetal Medicine Unit, Department of Obstetrics and Gynecology, Research Institute Hospital 12 de Octubre (imas12), Primary Care Interventions to Prevent Maternal and Child Chronic Diseases of Perinatal and Developmental Origin (RICORS Network), University Hospital 12 de Octubre, Complutense University, Madrid, Spain., Salcedo Lobato E; Paediatric Gastroenterology, Hepatology and Nutrition Unit, Cystic Fibrosis Multidisciplinary Unit, University Hospital 12 de Octubre, Madrid, Spain., Galindo Izquierdo A; Fetal Medicine Unit, Department of Obstetrics and Gynecology, Research Institute Hospital 12 de Octubre (imas12), Primary Care Interventions to Prevent Maternal and Child Chronic Diseases of Perinatal and Developmental Origin (RICORS Network), University Hospital 12 de Octubre, Complutense University, Madrid, Spain., García Alcázar D; Perinatal Medicine Unit, Department of Obstetrics and Gynecology, University Hospital 12 de Octubre, Madrid, Spain., Villalain González C; Fetal Medicine Unit, Department of Obstetrics and Gynecology, Research Institute Hospital 12 de Octubre (imas12), Primary Care Interventions to Prevent Maternal and Child Chronic Diseases of Perinatal and Developmental Origin (RICORS Network), University Hospital 12 de Octubre, Complutense University, Madrid, Spain., Moral-Pumarega MT; Neonatology Department, University Hospital 12 de Octubre, Madrid, Spain., Bustos Lozano G; Neonatology Department, University Hospital 12 de Octubre, Madrid, Spain., Luna-Paredes C; Paediatric Pneumology and Allergy Unit, Cystic Fibrosis Multidisciplinary Unit Coordinator, University Hospital 12 de Octubre, Madrid, Spain.
Jazyk:	angličtina
Zdroj:	Fetal diagnosis and therapy [Fetal Diagn Ther] 2023; Vol. 50 (2), pp. 136-142. Date of Electronic Publication: 2023 Mar 30.
DOI:	10.1159/000530261
Abstrakt:	Introduction: Cystic fibrosis (CF) is a potentially severe disease. The development of new therapies with cystic fibrosis transmembrane conductance regulator (CFTR) modulators has been a great advance in the management of this condition because they improve the function of the faulty CFTR protein rather than palliate its consequences. CFTR modulator therapy improves pancreatic and lung function and, therefore, quality of life, with greater benefits the sooner treatment is started. For this reason, the use of these therapies is being approved for increasingly younger patients. Only two cases of pregnant women taking CFTR modulator therapy with CF fetuses have been reported, suggesting that it could resolve meconium ileus (MI) prenatally and delay/prevent other consequences of CF. Case Presentation: We report a case of a healthy pregnant patient who underwent CFTR modulator therapy with elexacaftor-tezacaftor-ivacaftor (ETI) in order to treat her fetus with CF (F508del homozygous CFTR mutation) and MI. Ultrasound findings suggestive of MI were observed at 24 weeks. Both parents were tested for CFTR mutations, and both were carriers of the F508del CFTR mutation. The fetus was diagnosed with CF by amniocentesis at 26+2 weeks. Maternal ETI therapy was initiated at 31+1 weeks, and no dilated bowel was observed at 39 weeks. There were no signs of bowel obstruction after birth. Maternal ETI treatment was continued during breastfeeding, with normal liver function. Immunoreactive trypsinogen in the newborn was 58.1 ng/mL, sweat chloride test was 80 mmol/L, and fecal elastase on the second day of life was 58 μg/g. Conclusion: Prenatal ETI treatment, as well as during breastfeeding, could solve, prevent, and/or delay CF complications. (© 2023 S. Karger AG, Basel.)
Databáze:	MEDLINE
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