Первинне інтерстиціальне захворювання легень, специфічне для дитячого віку, зумовлене аномаліями білків легеневого сурфактанта
ORPHA:100049· Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
Визначення(English summary)
A group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation.