ArticleFrontiers in genetics2022
Case Report: Report of Two Cases of Interstitial Lung Disease Caused by Novel Compound Heterozygous Variants in the
Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 3 citations in OpenAlex.
- Analytical validation of capillary blood Krebs von den Lungen-6 measurement using a high- sensitivity chemiluminescent immunoassay in pediatric patients.Frontiers in medicine · 2026Article
- Genetic susceptibility to interstitial lung disease: a case ofQuantitative imaging in medicine and surgery · 2025Article
- Novel Compound Heterozygous Mutation of theJournal of clinical medicine · 2025Article
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9 authors at 3 institutions in 2 countries.
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Abstract
Interstitial lung disease (ILD) is a heterogeneous group of pulmonary disorders involving the lung interstitium and distal airways, also known as diffuse lung disease. The genetic defects resulting in alveolar surfactant protein dysfunction are a rare cause of ILD in pediatric patients. We report two unrelated pediatric patients with shortness of breath, dyspnea and hypoxemia, and the chest CT findings including patchy ground-glass opacity in both lung fields, suggestive of diffuse ILD. One patient was a full-term male infant who had shortness of breath a few hours after the birth, and then developed into severe respiratory distress syndrome (RDS). Whole exome sequencing revealed novel compound heterozygous variants in the
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