Rapid and progressive pulmonary fibrosis in 2 families with DNA repair deficiencies of undetermined etiology.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 22240110.
- Also identified by DOI 10.1016/j.jpeds.2011.12.001 and PMC identifier 4835171.
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Abstract
Known genetic causes of pediatric interstitial lung disease include disorders of surfactant metabolism, telomerase, and DNA repair. We report 4 children from 2 families with rapidly progressive and fatal pulmonary fibrosis. A novel DNA repair defect unrelated to the ataxia-telangiectasia mutated gene was found in 1 child from each family.
Medical subject headings
- DNA Repair-Deficiency Disorders
- Pulmonary Fibrosis