Thorax 2000;55:720-721
( August )
Case reports
Induced sputum examination: diagnosis of pulmonary involvement in
Fabry's disease
Margaret M Kelly, Richard Leigh, Rick McKenzie, Dennis Kamada, E Helen Ramsdale, Frederick E Hargreave
Asthma
Research Group, Department of Medicine, St Joseph's Hospital and
McMaster University, Hamilton, Ontario, Canada
Correspondence to: Dr F E Hargreave, Firestone Regional Chest and Allergy Unit, St
Joseph's Hospital, 50 Charlton Avenue East, Hamilton, Ontario L8N 4A6,
Canada
email: hargreav{at}fhs.mcmaster.ca
Received 30 June 1999; Returned to authors 11 November 1999; Revised version received 30 November 1999;
Accepted for publication 30 November 1999
Fabry's disease is a rare inherited metabolic disorder caused
by a deficiency in the enzyme 
-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.
Keywords:
Fabry's disease;
induced sputum;
electron
microscopy
© 2000 by Thorax
