Children's interstitial and diffuse lung disease (chILD) is a term that encompasses a large
and diverse group of rare pediatric diseases and disorders. Significant progress has been …

We present a case of an infant born at almost 28 weeks gestation, found to be homozygous
for a missense mutation of ABCA3, with diffuse lung disease that has continued throughout …

ABCA3 is a phospholipid transporter protein required for surfactant assembly in lamellar
bodies of alveolar type II cells. Biallelic pathogenic ABCA3 variants cause severe neonatal …

Surfactant is a complex of phospholipids and proteins produced in type II pneumocytes. Its
deficiency frequently occurs in preterm infants and causes respiratory distress syndrome. In …

Rationale ABCA3 is a lipid transporter in the limiting membrane of lamellar bodies in
alveolar type II cells. Mutations in the ABCA3 gene cause respiratory distress syndrome in …

Genetic mechanisms are now recognized as rare causes of neonatal lung disease. Genes
potentially responsible for neonatal lung disease include those encoding proteins important …

Exposure to cadmium (Cd), a heavy metal, can cause strong and toxic side effects. Cd can
enter the body of organisms in several ways, leading to various pathological reactions in the …

Homozygous or compound heterozygous for frameshift or nonsense mutations in the ATP–
binding cassette transporter A3 (ABCA3) is associated with neonatal respiratory failure and …

Childhood rare lung diseases comprise a large number of heterogeneous respiratory
disorders that are individually rare but are collectively associated with substantial morbidity …

Objective To investigate the prevalence of surfactant dysfunction (SD) and the genotype
distribution in Chinese childhood interstitial lung disease (chILD). Methods From December …