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Am J Med Genet A. 2007 Feb 15;143(4):377-81.

Pulmonary manifestations of Fabry disease and positive response to enzyme replacement therapy.

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Department of Radiology, University of Pennsylvania School of Medicine, Philadelphia, USA.


Fabry disease affects multiple organs, including the lungs. To date, there have been no reports of the effect of enzyme replacement therapy on patients with pulmonary manifestations of the disease. We report on a case of marked improvement of pulmonary signs and symptoms in a patient with Fabry disease following enzyme replacement therapy. A 38-year-old female with Fabry disease presented with dyspnea requiring constant supplemental oxygen. Following bi-weekly treatment with agalsidase beta, she demonstrated marked improvement in her pulmonary symptoms, eventually no longer needing supplemental oxygen and returning to an active lifestyle. Improvement was seen on pulmonary function tests and chest CT examinations. Enzyme replacement therapy may alleviate pulmonary dysfunction in patients with Fabry disease.

[Indexed for MEDLINE]

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