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 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.