Induced sputum examination: diagnosis of pulmonary involvement in Fabry's disease.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 10899253.
- Also identified by PMC identifier 1745834.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
Fabry's disease is a rare inherited metabolic disorder caused by a deficiency in the enzyme alpha-galactosidase A. It can affect almost every organ, including the lungs. Confirmation of lung involvement has depended on invasive bronchial biopsy specimens or brushings to confirm the presence of typical lamellar inclusion bodies within bronchial epithelial cells. We report a patient with known Fabry's disease in whom these inclusion bodies were identified by examination of induced sputum.
Medical subject headings
- Fabry Disease
- Lung Diseases