Cystic fibrosis transmembrane conductance regulator modulator administration to a F508del heterozygous infant with meconium pseudocyst and short bowel syndrome: A case report

Pediatr Pulmonol. 2024 Mar;59(3):791-793. doi: 10.1002/ppul.26809. Epub 2023 Dec 13.

Authors

Sylvia Stoffella¹, Ngoc Ly², Meghan McGarry², Fatima Neemuchwala², Gwynne Church², Marilynn Chan², Addison Cuneo², Makiko Omori², Elizabeth Gibb²

Affiliations

¹ Department of Pharmacy, University of California San Francisco, San Francisco, California, USA.
² Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.

PMID: 38088240
DOI: 10.1002/ppul.26809

No abstract available

Keywords: CFTR modulators: infant; Cystic Fibrosis; elexacaftor; ivacaftor; meconium pseudocyst; short bowel syndrome; tezacaftor.

Publication types

Case Reports

MeSH terms

Aminophenols
Benzodioxoles
Chloride Channel Agonists
Cystic Fibrosis Transmembrane Conductance Regulator / genetics
Cystic Fibrosis*
Drug Combinations
Heterozygote
Humans
Infant, Newborn
Meconium
Mutation
Short Bowel Syndrome*

Substances

Cystic Fibrosis Transmembrane Conductance Regulator
Aminophenols
Benzodioxoles
Chloride Channel Agonists
Drug Combinations

Grants and funding

None