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Interstitial lung disease in the newborn

Journal of Perinatology volume 45, pages 13–23 (2025)Cite this article

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Abstract

Although relatively rare, interstitial lung diseases may present with respiratory distress in the newborn period. Most commonly these include developmental and growth disorders, disorders of surfactant synthesis and homeostasis, pulmonary interstitial glycogenosis, and neuroendocrine cell hyperplasia of infancy. Although the diagnosis of these disorders is sometimes made based on clinical presentation and imaging, due to the significant overlap between disorders and phenotypic variability, lung biopsy or, increasingly genetic testing is needed for diagnosis. These diseases may result in significant morbidity and mortality. Effective medical treatment options are in some cases limited and/or invasive. The genetic basis for some of these disorders has been identified, and with increased utilization of exome and whole genome sequencing even before lung biopsy, further insights into their genetic etiologies should become available.

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  1. Divisions of Neonatology and Pulmonology, Department of Pediatrics, University of Rochester Medical Center, 601 Elmwood Ave, Rochester, NY, 14642, USA

    Hannah Giunta-Stibb

  2. Mildred Stahlman Division of Neonatology, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, 37232, USA

    Brian Hackett

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Giunta-Stibb, H., Hackett, B. Interstitial lung disease in the newborn. J Perinatol 45, 13–23 (2025). https://doi.org/10.1038/s41372-024-02036-9

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