The lipid transporter, ATP-binding cassette class A3 (ABCA3), is a highly conserved multi-
membrane-spanning protein that plays a critical role in the regulation of pulmonary …

Dating back nearly 35 years ago to the Witschi hypothesis, epithelial cell dysfunction and
abnormal wound healing have reemerged as central concepts in the pathophysiology of …

Cystinuria, a genetic disorder of cystine transport, is characterized by excessive excretion of
cystine in the urine and recurrent cystine stones in the kidneys and, to a lesser extent, in the …

Pulmonary surfactant is critically important to prevent atelectasis by lowering the surface
tension of the alveolar lining liquid. While respiratory distress syndrome (RDS) is common in …

Background The majority of patients with childhood interstitial lung disease (chILD) caused
by pathogenic variants in ATP binding cassette subfamily A member 3 (ABCA3) develop …

Mutations in ATP-binding cassette A3 (ABCA3), a phospholipid transporter critical for
surfactant homeostasis in pulmonary alveolar type II epithelial cells (AEC2s), are the most …

Objective To compare outcomes of infants and children who underwent lung transplantation
for genetic disorders of surfactant metabolism (SFTPB, SFTPC, ABCA3, and NKX2-1) over 2 …

Bronchopulmonary dysplasia (BPD) is a multi-factorial disease that results from a
combination of clinical factors, including lung immaturity, mechanical ventilation, oxidative …

Interstitial lung diseases (ILDs) are a set of heterogeneous lung diseases characterised by
inflammation and, in some cases, fibrosis. These lung conditions lead to dyspnoea, cough …

Objectives Childhood interstitial lung disease (chILD) is a group of rare chronic and complex
disorders of variable pathology. There has been no systematic review of published chILD …