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Thorax 2000;55:720-721 doi:10.1136/thorax.55.8.720
  • Case Report

Induced sputum examination: diagnosis of pulmonary involvement in Fabry's disease

  1. Margaret M Kelly,
  2. Richard Leigh,
  3. Rick McKenzie,
  4. Dennis Kamada,
  5. E Helen Ramsdale,
  6. Frederick E Hargreave
  1. Asthma Research Group, Department of Medicine, St Joseph's Hospital and McMaster University, Hamilton, Ontario, Canada
  1. 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
  • Revision requested 11 November 1999
  • Revised 30 November 1999
  • Accepted 30 November 1999

Abstract

Fabry's disease is a rare inherited metabolic disorder caused by a deficiency in the enzyme α-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.

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