Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants.

Juan E BalinottiCamila MallieAlberto Maffey Alejandro J Colom Ralph EpaudAlix de BecdelievrePascale FanenCéline DelestrainMartín MedínAlejandro Teper

Published in: Pediatric pulmonology (2022)

Clinical, histological, and radiological features are similar in patients with SFTPC and ABCA3 variants; however, the latter have more severe clinical course. Current anti-inflammatory regimens do not appear to stop the progression of the disease.

Keyphrases

copy number
anti inflammatory
pulmonary hypertension
early onset
dna methylation
drug induced