Three Infants with Pathogenic Variants in the ABCA3 Gene: Presentation, Treatment and Clinical Course

ABCA3 deficiency is a rare cause of neonatal respiratory failure. Bi-allelic 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 three such infants presenting with respiratory distress at birth is described.

Source: The Journal of Pediatrics - December 23, 2020 Category: Pediatrics Authors: Si, X., Steffes, L.C., Schymick, J.C., Hazard, F.K., Tracy, M.C., Cornfield, D.N. Tags: Brief Reports Source Type: research