Interstitial lung diseases in the neonatal period
Résumé
Neonatal interstitial lung diseases (ILDs) are rare disorders with a high morbidity and
mortality manifesting as severe respiratory insufficiency with frequent PH. The main causes
are surfactant disorders, especially disorders of the proteins SP-B, SP-C, ABCA3 and
NKX2-1, which can be diagnosed with molecular screening. Other aetiologies are
developmental disorders that are more often diagnosed on lung biopsy or autopsy. The most
frequent is alveolocapillary dysplasia with misalignment of pulmonary veins, often related to
a FOXF1 mutation. The medical management of curable diseases is based mainly on
corticosteroids. In some cases, lung transplantation may be discussed. The prognosis relies
highly on the rapidity of the management, which should be provided by expert
multidisciplinary teams including clinicians, paediatric radiologists, pathologists and
geneticists. Genetic counselling should always be provided to the family, even if occurring
after a fatal evolution of the disease. Often misdiagnosed and underestimated, neonatal ILD
patients should be systematically reported in reference databases for children’s ILD.