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Rehabilitation Practice and Science

Translated Title

晚發型龐貝氏症接受酵素治療後的心肺運動測試：案例報告與文獻回顧

Abstract

In this casereport, we present a pair of siblings, a 16-year-old boy and a 19-year-old woman, who were both diagnosed as having late-onset Pompe disease. Each underwent cardiopulmonary exercise testing (CPET) in 2013 and 2015, respectively. The major finding in these two cases was that enzyme replacement therapy (ERT) over a 24-month period improved or stabilized pulmonary function despite late-onset Pompe disease. CPET revealed improved aerobic capacity in the brother, who was physically active, but deterioration in the sister, who lived a sedentary lifestyle. The findings of our cases are compatible with the current consensus that ERT can stabilize or even improve preexisting restrictive lung conditions in patients with late-onset Pompe disease. In addition to the traditional pulmonary function test, CPET is valuable for detecting a subtle decline in aerobic capacity over a short period and can guide clinicians to promptly initiate a cardiopulmonary rehabilitation program.

Language

English

First Page

211

Last Page

217

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