Interstitial lung diseases in children.

Area of Science:

• Pediatric Pulmonology
• Rare Diseases
• Genetics

Background:

• Childhood interstitial lung disease (chILD) is a rare, chronic group of disorders.
• chILD features lung inflammation and fibrosis, impairing gas exchange.
• Etiologies are diverse, including environmental, systemic, and primary lung dysfunctions.

Purpose of the Study:

• To review the classification, clinical presentation, diagnosis, and emerging therapies for chILD.
• To highlight the growing role of genetic mutations in chILD pathogenesis.
• To emphasize the need for collaborative research to improve patient management and outcomes.

Main Methods:

• Literature review and synthesis of current knowledge on chILD.
• Classification of chILD etiologies into four main categories.
• Identification of key genetic mutations associated with chILD.

Main Results:

• chILD classification includes environmental, systemic, primary lung, and infancy-specific forms.
• Genetic mutations in surfactant genes (SFTPA1/2, SFTPB/C, ABCA3, NKX2-1) are significant contributors.
• Few genotype-phenotype correlations are established, and corticosteroids remain primary treatment, with specific therapies emerging.

Conclusions:

• Understanding chILD requires recognizing its heterogeneous nature and complex pathogenesis.
• Genetic discoveries are crucial for advancing chILD diagnosis and treatment.
• International collaboration is vital for improving knowledge and developing targeted therapies for children with chILD.