Academic Journal
Prenatal initiation of elexacaftor/tezacaftor/ivacaftor via carrier mother prevents congenital bilateral absence of vas deferens in a male infant with cystic fibrosis.
| Τίτλος: | Prenatal initiation of elexacaftor/tezacaftor/ivacaftor via carrier mother prevents congenital bilateral absence of vas deferens in a male infant with cystic fibrosis. |
|---|---|
| Συγγραφείς: | Thee S; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin D-13353, Germany; German Center for Child and Adolescent Health (DZKJ), Partner Site Berlin, Augustenburger Platz 1, Berlin D-13353, Germany; Berlin Institute of Health (BIH) at Charité, Anna-Louisa-Karsch-Str. 2, Berlin D-10178, Germany., Aleksander P; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin D-13353, Germany., Lechner L; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin D-13353, Germany; Department of Pediatric Endocrinology and Diabetology, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin D-13353, Germany., Posch H; Department of Radiology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin D-13353, Germany., Koegel C; Department of Pediatric Radiology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin D-13353, Germany., Mall MA; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin D-13353, Germany; German Center for Child and Adolescent Health (DZKJ), Partner Site Berlin, Augustenburger Platz 1, Berlin D-13353, Germany; German Center for Lung Research (DZL), Associated Partner Site Berlin, Augustenburger Platz 1, Berlin D-13353, Germany., Stahl M; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin D-13353, Germany; German Center for Child and Adolescent Health (DZKJ), Partner Site Berlin, Augustenburger Platz 1, Berlin D-13353, Germany; Berlin Institute of Health (BIH) at Charité, Anna-Louisa-Karsch-Str. 2, Berlin D-10178, Germany; German Center for Lung Research (DZL), Associated Partner Site Berlin, Augustenburger Platz 1, Berlin D-13353, Germany. Electronic address: Mirjam.stahl@charite.de. |
| Πηγή: | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2026 Jul; Vol. 25 (4), pp. 609-612. Date of Electronic Publication: 2026 Feb 07. |
| Τύπος έκδοσης: | Case Reports; Journal Article |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101128966 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5010 (Electronic) Linking ISSN: 15691993 NLM ISO Abbreviation: J Cyst Fibros Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Amsterdam ; New York : Elsevier, c2002- |
| Ιατρικοί όροι (MeSH): | Cystic Fibrosis*/drug therapy , Cystic Fibrosis*/genetics , Cystic Fibrosis*/diagnosis , Cystic Fibrosis*/complications , Vas Deferens*/abnormalities , Vas Deferens*/diagnostic imaging , Benzodioxoles*/therapeutic use , Benzodioxoles*/administration & dosage , Indoles*/therapeutic use , Indoles*/administration & dosage , Aminophenols*/therapeutic use , Aminophenols*/administration & dosage , Pyrrolidines*/therapeutic use , Pyrrolidines*/administration & dosage, Chloride Channel Agonists/therapeutic use ; Chloride Channel Agonists/administration & dosage ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Prenatal Diagnosis/methods ; Humans ; Male ; Infant, Newborn ; Pregnancy ; Female ; Drug Combinations ; Heterozygote ; Pyrazoles ; Pyridines ; Quinolines ; Male Urogenital Diseases |
| Περίληψη: | Background: Prenatal therapy with elexacaftor/tezacaftor/ivacaftor (ETI) has recently emerged as a potential strategy to modify the early natural history of cystic fibrosis (CF). While case reports have described prevention of meconium ileus and pancreatic insufficiency, data on male reproductive outcomes remain extremely limited. Case Presentation: We report a male infant with CF (homozygous F508del) whose heterozygous carrier mother initiated ETI at 27+4 weeks of gestation after prenatal diagnosis. Pregnancy was uneventful until preterm delivery at 35+2 weeks. The neonate presented with normal meconium passage, persistently normal fecal elastase, and no pulmonary abnormalities on magnetic resonance imaging. ETI was initiated directly in the infant at day 11 of life, with subsequent catch-up growth and discontinuation of pancreatic enzyme replacement therapy at 8 weeks. Remarkably, ultrasound at 8 weeks demonstrated bilateral vas deferens, a structure typically absent in nearly all male patients with CF at birth. Sweat chloride concentrations normalized under therapy, and no CF-typical manifestations were observed during the first 7 months of life. Conclusion: This is the first report of a male infant with CF in whom prenatal ETI via a heterozygous carrier mother, started in the second trimester and continued postnatally, was associated with preserved exocrine pancreatic function, absence of pulmonary disease, and presence of vas deferens. These findings suggest that prenatal CFTR modulation - even when initiated late in gestation - may alter the trajectory of CF-related organ manifestations, including male reproductive development. Long-term follow-up is essential to determine whether these early benefits translate into sustained preservation of fertility and multiorgan function. (Copyright © 2026 The Author(s). Published by Elsevier B.V. All rights reserved.) |
| Competing Interests: | Declaration of competing interest S.T. reports a grant from Vertex Pharmaceuticals with payments made to the institution; lecture honoraria for lectures from Chiesi, PARI GmbH, Vertex Pharmaceutical and Viatris. M.A.M. reports grants and contracts from Boehringer Ingelheim, Enterprise Therapeutics and Vertex Pharmaceuticals with payments made to the institution; personal fees for advisory board participation or consulting from Boehringer Ingelheim, Enterprise Therapeutics, Kither Biotech, Splisense, Vertex Pharmaceuticals; lecture honoraria from Vertex Pharmaceuticals; and travel support from Boehringer Ingelheim and Vertex Pharmaceuticals. M.S. reports grants and contracts from Boehringer Ingelheim, BiomX and Vertex Pharmaceuticals with payments made to the institution; personal fees for advisory board participation or lecture honoraria from SOBI and Vertex Pharmaceuticals. All other authors declare no conflict of interest. |
| Contributed Indexing: | Keywords: CBAVD; False-negative CF newborn screening; Male fertility |
| Substance Nomenclature: | 0 (Benzodioxoles) 0 (Indoles) 0 (Aminophenols) 0 (Pyrrolidines) 0 (Drug Combinations) 0 (Chloride Channel Agonists) 126880-72-6 (Cystic Fibrosis Transmembrane Conductance Regulator) 0 (elexacaftor, ivacaftor, tezacaftor drug combination) 0 (Pyrazoles) 0 (Pyridines) 0 (Quinolines) |
| SCR Disease Name: | Congenital bilateral aplasia of vas deferens |
| Entry Date(s): | Date Created: 20260207 Date Completed: 20260730 Latest Revision: 20260730 |
| Update Code: | 20260731 |
| DOI: | 10.1016/j.jcf.2026.02.001 |
| PMID: | 41654435 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 1873-5010 |
|---|---|
| DOI: | 10.1016/j.jcf.2026.02.001 |