Interstitial lung disease due to ABCA3 deficiency

Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.

Also known as: interstitial lung disease due to ABCA3 deficiency, interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency, surfactant metabolism dysfunction, pulmonary, type 3, SMDP3, pulmonary alveolar proteinosis, congenital, 3, surfactant metabolism dysfunction, pulmonary, 3

60 clinical trials for this condition and its sub-types, 0 tagged with Interstitial lung disease due to ABCA3 deficiency itself.