An update on diagnosis and treatments of childhood interstitial lung diseases

Abstract

Childhood interstitial lung diseases (chILDs) are rare and heterogeneous disorders associated with significant morbidity and mortality. The clinical presentation of chILD typically includes chronic or recurrent respiratory signs and symptoms with diffuse radiographic abnormalities on chest imaging. Diagnosis requires a structured, multi-step approach. Treatment options are limited, with disease-specific therapies available only in selected cases and management relying primarily on supportive care. Awareness of chILDs has been steadily increasing. New diagnoses, advanced diagnostic tests, and novel treatments are emerging each year, highlighting the importance of collaborative, multidisciplinary teams in providing comprehensive care for children and families affected by these complex conditions. On behalf of the European Respiratory Society Clinical Research Collaboration for chILD (ERS CRC chILD-EU), this review provides an updated overview of the diagnostic approach and management strategies for chILDs.

FIGURE 1

Extrapulmonary symptoms suggestive of specific aetiology (involved gene). The intensity of the colour corresponds to the percentage of symptom occurrence as reported in the literature, with darker shades representing higher frequencies. MRI: magnetic resonance imaging; SFTP -A1/-A2/-B-/C: surfactant protein A1/A2/B/C; ABCA3: ATP binding cassette subfamily A member 3; NKX2.1: thyroid transcription factor; FOXP1: forkhead box P1; FOXF1: forkhead box protein F1; TBX4: T-box transcription factor 4; COPA: coatomer protein complex, subunit alpha; STING-1: stimulator of interferon response cGAMP interactor 1; ARSs: aminoacyl-tRNA synthetases; OAS1: oligoadenylate synthetase 1; ZNFX1: zinc finger nfx1-type domain-containing protein 1; FGF10: fibroblast growth factor 10; NHLRC2: NHL repeat-containing protein 2; FLNA: filamin A; RAB5B: RAS-associated protein; ITGA3: integrin alpha-3; SMDP1: sphingomyelin phosphodiesterase 1; SLC7A7: lysinuric protein intolerance; CTD: connective tissue diseases.

FIGURE 2

Investigations in the diagnostic approach to childhood interstitial lung disease.