Article
Three Infants with Pathogenic Variants in the ABCA3 Gene: Presentation, Treatment, and Clinical Course.
The Journal of pediatrics - 1 Apr 2021
Si Xin, Steffes Lea C, Schymick Jennifer C, Hazard Florette K, Tracy Michael C, Cornfield David N
Abstract excerpt
ABCA3 deficiency is a rare cause of neonatal respiratory failure. Biallelic complete loss of function variants lead to neonatal demise without lung transplantation, but children with partial function variants have variable outcomes. The favorable clinical course of 3 such infants presenting with respiratory distress at birth is described.
Topics
- ATP-Binding Cassette Transporters
- Humans
- Infant, Newborn
- Male
- Mutation
- Respiratory Distress Syndrome, Newborn