Rapid and Progressive Pulmonary Fibrosis in 2 Families with DNA Repair Deficiencies of Undetermined Etiology

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 gen...

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Veröffentlicht in:	The Journal of pediatrics 2012-04, Vol.160 (4), p.700-702.e3
Hauptverfasser:	Vece, Timothy J., MD, Schecter, Marc G., MD, Gatti, Richard A., MD, Tunuguntla, Rashmi, PhD, Garcia, Christine Kim, MD, Langston, Claire, MD, Dishop, Megan K., MD, Moore, Robert H., MD, Fan, Leland L., MD
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Disease Progression DNA Repair-Deficiency Disorders - complications General aspects Humans Infant, Newborn Male Medical sciences Pediatrics Pneumology Pulmonary Fibrosis - genetics Respiratory system : syndromes and miscellaneous diseases Time Factors
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Beschreibung
Zusammenfassung:	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.
ISSN:	0022-3476 1097-6833
DOI:	10.1016/j.jpeds.2011.12.001