Publication Type Academic Article
Authors Rosenberg D, Ferrans V, Fulmer J, Line B, Barranger J, Brady R, Crystal R
Journal Am J Med
Volume 68
Issue 6
Pagination 898-905
Date Published 06/01/1980
ISSN 0002-9343
Keywords Airway Obstruction, Fabry Disease
Abstract Seven patients with Fabry's disease, an x-linked sphingolipid storage disorder, were evaluated for the presence and extent of airway obstruction. All were found to have significant obstruction to airflow. In addition, evaluation of their airway epithelial cells obtained by bronchoscopy demonstrated that these cells contained inclusion bodies consistent with deposits of ceramide trihexoside, suggesting that part of their functional obstruction to airflow may be secondary to intrinsic airway disease. Although all of the study population had evidence of airflow obstruction, the impairment was much worse in those who smoked, implying that even mild cigarette smoking is particularly hazardous to patients with Fabry's disease.
DOI 10.1016/0002-9343(80)90224-7
PubMed ID 6247911
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