Pediatric interstitial pulmonary (PIP) disease is a rare entity, with symptoms, managing, and prognosis different to those in adults. In some cases they are associated with genetic defects, especially in neonatal and first infancy forms. The majority of mutations are identified in genes related with surfactant metabolism. In this panel, other genes related with the infant form of alveolar proteinosis and other less frequent processes are included. PIP disease constitutes a diagnostic challenge due to the clinical, radiological, and histological overlap, which is why the genetic study is such an important diagnostic tool.
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