In this up-to-date study, we first aimed to highlight the genetic and non-genetic factors
associated with respiratory distress syndrome (RDS) while also focusing on the genomic …

There is a wide differential diagnosis of early onset respiratory distress especially in term
babies, and interstitial lung disease (chILD) is a rare but important consideration in this …

Antisense oligonucleotides are an emerging therapeutic option to treat diseases with known
genetic origin. In the age of personalised medicines, antisense oligonucleotides can …

Background: Monogenic and polygenic inheritances are evidenced for idiopathic pulmonary
fibrosis (IPF). Pathogenic variations in surfactant protein-related genes, telomere-related …

Genetic disorders of the surfactant system are rare diseases with a broad range of clinical
manifestations, from fatal respiratory distress syndrome (RDS) in neonates to chronic …

ABCA3 is highly expressed in alveolar epithelial type 2 cells and is associated with
surfactant homeostasis. Patients with ABCA3 mutations develop various respiratory …

ABCA3 transports phospholipids across lamellar body membranes in pulmonary alveolar
type II cells and is required for surfactant assembly. Rare, biallelic, pathogenic ABCA3 …

Respiratory distress is one of the most common clinical presentations in newborns requiring
admission to a Neonatal Intensive Care Unit (NICU). Many of these infants develop …

Paediatric disorders of pulmonary surfactant may occur due to mutations involving surfactant
proteins B and C, and ATP‐binding cassette subfamily A member 3 (ABCA3) genes …

Interstitial lung diseases (ILDs) in adults and children (chILD) are a heterogeneous group of
lung disorders leading to inflammation, abnormal tissue repair and scarring of the lung …