The Impact of Genetics on Pediatric Interstitial Lung Diseases: A Narrative Literature Review

Background: Interstitial lung diseases (ILDs) are a heterogeneous group of disorders characterized by variable degrees of inflammation and fibrosis affecting the pulmonary interstitium. Advances in molecular biology and genetics have greatly expanded our understanding of ILD pathogenesis, revealing novel mechanisms and supporting the development of precision medicine approaches. Genetic insights: Genetic factors play a pivotal role in ILD heterogeneity, influencing disease onset, severity, and progression. To date, more than 30 genes with different inheritance patterns (autosomal dominant, recessive, or X-linked) have been associated to ILDs. These genes are primarily involved in surfactant metabolism, telomere mainte-nance, immune regulation, and epithelial repair. Recent evidence also implicates genes encoding aminoacyl-tRNA synthetases. This review summarises the main genetic al-terations underlying ILD pathogenesis and discusses their impact on diagnostic and therapeutic approaches, highlighting how identification of disease-causing variants can improve diagnostic accuracy, refine prognostic assessment, and inform recurrence risk. Methods: A narrative review was conducted through targeted PubMed and Embase searches using disease- and gene-related keywords. Eligible publications included narrative and systematic reviews, meta-analyses, case series, prospective studies, society guidelines, and peer-reviewed editorials. Conclusions: This synthesis brings together the latest genetic insights into pediatric ILDs and their clinical implications. Integrating genomic data into clinical practice may enable earlier diagnosis, tailored follow-up, individualized therapeutic strategies, and more informed genetic counseling. Collectively, these advances hold promise for better out-comes in children affected by ILDs.