Esiti respiratori in bambini con sindrome di distress respiratorio neonatale e varianti monoalleliche di ABCA3.

INTRODUCTION: Lung disease due to ABCA3 variants and resultant surfactant dysfunction is an autosomal recessive disease. However, monoallelic ABCA3 variants are overrepresented in term or late-preterm infants with non-fatal neonatal respiratory distress syndrome (RDS). The childhood respiratory outcomes of infants with monoallelic ABCA3 variants who present with neonatal RDS are unknown. In this study, we report the respiratory outcomes beyond neonatal hospitalization (median follow-up 1 year [range 1-9.4 years]) for infants with monoallelic ABCA3 variants and neonatal RDS. METHODS: Participants with monoallelic ABCA3 variants classified as pathogenic, likely pathogenic, or of uncertain sig