Pediatric interstitial lung disease is a rare entity whose symptoms, management, and prognosis differ from those of the adult form. In some cases, it is associated with genetic defects, particularly in neonatal and infant forms. Most mutations have been identified in genes involved in surfactant metabolism. This panel also includes other genes related to infantile alveolar proteinosis and to other less frequent processes.
Pediatric ILD poses a diagnostic challenge due to its clinical, radiological, and histological overlap with other entities; therefore, genetic testing provides an important diagnostic tool.