Genetic basis - Neonatal interstitial lung diseases can be caused by genetic mutations. Mutations in surfactant metabolism genes (such as SFTPB, SFTPC, ABCA3, and NKX2-1) are especially significant. ABCA3 mutations are identified as responsible for a significant proportion of fatal neonatal lung disease, often inherited in an autosomal-recessive manner, leading to surfactant dysfunction, severe respiratory distress syndrome, and chronic or lethal ILD. Histological features include type II pneumocyte hyperplasia, abnormal lamellar bodies, and interstitial thickening
Pathophysiology - The pulmonary interstitium becomes inflamed and fibrotic, thickening alveolar walls and impeding gas exchange. Surfactant dysfunction (particularly from ABCA3 mutations) disrupts alveolar stability, contributing to alveolar collapse, poor oxygenation, and progressive fibrosis. These changes result in a restrictive lung pattern and profound hypoxemia
Complications - Rapid progression to severe, unmanageable hypoxemic respiratory failure. Pulmonary hypertension. Cardiac complications from chronic hypoxemia. Death in the neonatal period despite intensive supportive care.
Why This Matters to Breeders and Vets - For breeders, the emergence of fatal neonatal interstitial lung disease signals a need for responsible genetic management, as propagation of affected lines can devastate breed health and reputation. For veterinarians, awareness is critical for early diagnosis, supportive management, communication with families/breeders, and advising on genetic counseling and prevention strategies. Identification and exclusion of genetic risk is vital to reducing future suffering and losses.