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Interstitial Lung Disease in Children: Rare Genetic Variants Beyond Surfactant Dysfunction
Satı Özkan Tabakçı1, Şule Selin Akyan Soydaş1, Gökçen Dilşa Tuğcu1
1Department of Pediatric Pulmonology, Ankara Bilkent City Hospital, Ankara, Türkiye.
Pediatric Pulmonology
|August 14, 2026
Summary
Genetic testing identified rare variants in children with interstitial lung disease (chILD), revealing links to immunodeficiency, metabolic errors, and systemic diseases. Early diagnosis and awareness are crucial for improved outcomes in pediatric chILD.
Area of Science:
- Pediatric Pulmonology
- Rare Diseases
- Genetics
Background:
- Advances in genetic analysis have identified novel genetic causes of children's interstitial lung disease (chILD).
- chILD represents a heterogeneous group of rare lung disorders in children.
Purpose of the Study:
- To characterize demographic, clinical, radiological, and laboratory data of children with diffuse lung disease caused by rare genetic variants.
- To analyze rare genetic subtypes of chILD using a national registry.
Main Methods:
- Retrospective cohort study utilizing the chILD Türkiye (chILD-TR) registry.
- Analysis of 37 pediatric patients with rare genetic variants, excluding common chILD genes.
- Genetic analysis identified variants in genes associated with immunodeficiency, metabolic errors, and other systemic conditions.
Main Results:
- The study identified 37 pediatric patients with rare genetic variants causing interstitial lung disease.
- Genetic variants were linked to immunodeficiency/autoinflammation (e.g., COPA, STAT3) and metabolic errors (e.g., NPC1, SMPD1).
- Radiological findings included ground-glass opacities, infiltrations, and septal thickening; 67.6% had familial consanguinity.
Conclusions:
- Interstitial lung disease in children is rare but increasingly identifiable through genetic testing.
- Recognizing diffuse parenchymal lung disease in rare systemic diseases can improve diagnosis and treatment strategies for pediatric chILD.
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