/interstitial lung disease due to ABCA3 deficiency

interstitial lung disease due to ABCA3 deficiency

Rare Disease

MONDO:0012582

Also Known As

interstitial lung disease due to ABCA3 deficiencyinterstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiencysurfactant metabolism dysfunction, pulmonary, type 3SMDP3pulmonary alveolar proteinosis, congenital, 3surfactant metabolism dysfunction, pulmonary, 3

Definition

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.