Genetic testing for rare pediatric lung disorders: The promise and the pitfalls

摘要

Genetic disorders of surfactant metabolism are rare causes of lung disease that arise from mutations in genes that encode proteins important in surfactant function and metabolism,and are associated with significant morbidity and mortality.1 Four different genes have been identified to date that can result in these disorders,with overlapping phenotypes that can range from severe neonatal respiratory distress syndrome to subacute interstitial lung disease in adults.