title: Induced sputum examination: diagnosis of pulmonary involvement in Fabry's disease.
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.
authors.affiliation: Asthma Research Group, Department of Medicine, St Joseph's Hospital and McMaster University, Hamilton, Ontario, Canada.
authors.forename: M M
authors.initials: MM
authors.lastname: Kelly
authors.forename: R
authors.initials: R
authors.lastname: Leigh
authors.forename: R
authors.initials: R
authors.lastname: McKenzie
authors.forename: D
authors.initials: D
authors.lastname: Kamada
authors.forename: E H
authors.initials: EH
authors.lastname: Ramsdale
authors.forename: F E
authors.initials: FE
authors.lastname: Hargreave
mesh_terms: D000328:Adult; D000795:Fabry Disease / Q000473:pathology*; D005260:Female; D006801:Humans; D008171:Lung Diseases / Q000473:pathology*; D008854:Microscopy, Electron / Q000379:methods; D013183:Sputum / Q000166:cytology