Surfactant Deficiency Disorders: SP-B and ABCA3

摘要: Single gene disorders disrupting surfactant metabolism and resulting in acute chronic lung disease have been identified recent years. This review focuses on from mutations the genes encoding protein B (SP-B) member A3 of ATP-binding cassette (ABCA3) family membrane transporters. The roles these proteins is reviewed, along with epidemiology, molecular genetics, clinical features, natural history, pathology findings, approach to diagnosis, treatment genes. Irreversible neonatal hypoxemic respiratory failure due diffuse parenchymal a common presentation both disorders. Children ABCA3 may also present relatively milder findings interstitial disease. While rare, result significant morbidity mortality, provided insights into normal metabolism, implicate as having role more diseases.