Unimpaired postnatal respiratory adaptation in a preterm human infant with a homozygous ENaC-α unit loss-of-function mutation.

Abstract excerpt

The amiloride-sensitive epithelial sodium channel, ENaC, is thought to have a major role in clearing fluid from the alveoli immediately after birth. ENaC-α knockout mice die soon after birth from failure to clear their lungs of liquid. We report on a male infant born after 33 weeks of gestation with uneventful postnatal adaptation (Apgar 9/9/9 at 1, 5 and 10  min after birth) who did not require any respiratory...

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