Childhood Interstitial Lung Disease (ChILD): A brief review

S5C – Neonatal Lung Disease
CHILDHOOD INTERSTITIAL LUNG DISEASE (ChILD): A BRIEF REVIEW

Andrew Bush
Imperial College and Royal Brompton Hospital, London, United Kingdom

chILDs can be seen as being in four categories: genetic, environmental, other known cause, and unknown aetiology. Some, for example hypersensitivity pneumonitis, can be in more than one category. This presentation will focus on early-onset chILD, the bulk of which are either genetic or unknown cause. Neonatal chILD usually presents as a term baby unexpectedly developing severe respiratory distress. Imaging is usually non-diagnostic, and the baby may progress rapidly to ECMO. The differential diagnosis is a surfactant protein (Sp) gene mutation (SpB, SpC and ABCA3 in particular) and the congenital alveolar dysplasia-alveolar capillary dysplasia (ACD) spectrum. Ideally diagnosis is made genetically, but the results may be delayed because the genetics of FOXF1 are complex. If the baby proceeds to ECMO, then an early lung biopsy is recommended to avoid prolonged futile treatment. There are increasing other genetic chILDs, including integrin gene mutations, often with renal and skin manifestations. chILDs with a subacute onset include neuroendocrine cell hyperplasia of infancy (NEHI, some cases genetic, the bulk unknown cause) and pulmonary interstitial glycogenosis (unknown cause), as well as subacute presentations of Sp gene and TBX4 mutations. Treatment is usually supportive and non-specific, and the outcomes especially of the acutely presenting chILDs are often poor. New approaches are being developed, including gene therapy and mutation-specific treatments. The future is understanding pathophysiology of disease and developing designer treatment molecules