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Congenital bilateral cataracts in newborns exposed to elexacaftor-tezacaftor-ivacaftor in utero and while breast feeding

Published:October 17, 2022DOI:https://doi.org/10.1016/j.jcf.2022.10.004

      Highlights

      • We report 3 cases of congenital cataracts in children exposed to ETI in utero.
      • In 2 of the cases, ETI components were detected in breast milk.
      • In all 3 cases known factors for congenital cataracts were not identified.
      • In all 3 cases cataracts were small and did not affect vision.
      • We suggest children exposed to ETI in utero are systematically tested for cataracts.

      Abstract

      Elexacaftor-tezacaftor-ivacaftor (ETI) is known to pass through the placenta and into breast milk in mothers who continue on this therapy while pregnant and breast feeding. Toxicity studies of ivacaftor in rats demonstrated infant cataracts, but cataracts were not reported in human infants exposed to ivacaftor. We describe 3 cases of infants exposed to elexacaftor-tezacaftor-ivacaftor (ETI) in utero and while breast feeding who were found to have bilateral congenital cataracts within six months of birth. None of the infants had significant visual impairment from the cataracts nor any report of elevated liver function testing. These data highlight the need to counsel females who continue ETI throughout pregnancy and while breast feeding to consider cataract screen for their infants.

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