Morbidity and Outcomes
Table 3 summarizes the clinical status of enrolled subjects at time of Registry enrollment using Fan severity of illness score18. While a quarter of subjects were asymptomatic, the lifetime morbidity experienced by the children in this cohort is substantial. Overall, 63% of subjects had a history of home supplemental oxygen use, and 12% required chronic (>3 weeks) invasive mechanical ventilation, with an additional 13% requiring chronic non-invasive ventilatory support. Failure to thrive occurred in 46% of subjects during their clinical course.
For the 527 subjects with outcome data available, 31 (6%) have died since enrollment. The diagnoses of those who died were immune-mediated or connective tissue disease (n=10), bronchiolitis obliterans (n=6), unclassified (n=4), other specific or multisystem disorders (n=4), surfactant dysfunction (n=2), environmental/toxic/drug related (n=2), lung developmental dysplasia (n=1), alveolar growth disorder (n=1), and pulmonary alveolar proteinosis (n=1). No deaths occurred in children with NEHI. Sixteen subjects in the registry underwent lung transplant with primary indicated diagnoses of surfactant metabolic dysfunction (n=5), bronchiolitis obliterans (n=3), unclassified chILD (n=3), alveolar growth disorder (n=2), lung developmental dysplasia (n=1), chILD associated with connective tissue or immune-mediated disorders (n=1), and other specific or multisystem disorder (n=1). Four deaths occurred among lung transplant recipients.