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題 名 | Cardiopulmonary Exercise Testing in Two Patients with Late-Onset Pompe Disease Receiving Enzyme Replacement Therapy: A Case Report and Mini-Review=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 |
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作 者 | 楊振亞; 邱之擎; 周正亮; | 書刊名 | 臺灣復健醫學雜誌 |
卷 期 | 44:4 2016.12[民105.12] |
頁 次 | 頁211-217 |
分類號 | 415.415 |
關鍵詞 | 肝醣儲存疾病; 龐貝氏症; 酵素替代療法; 心肺運動測試; 肺功能測試; 有氧能力; Glycogen storage disorder; Pompe disease; Enzyme replacement therapy; Cardiopulmonary exercise testing; Pulmonary function test; Aerobic capacity; |
語 文 | 英文(English) |
中文摘要 | 龐貝氏症又稱作第二型肝醣儲積症,是一種罕見的體隱性遺傳疾病,有缺陷的基因造成體內負責分解肝醣的酸性α-葡萄糖苷酶缺乏,使得肝醣分子堆積在細胞內的溶小體中,而堆積的肝糖會使得許多器官逐漸衰竭。最常影響的器官為骨骼肌,因此患者常會出現肌肉無力,呼吸肌衰竭甚至有些患者會有心臟的侵犯。龐貝氏症根據病發的時間可分為早發與晚發型,早發型龐貝氏症往往在嬰兒出生後幾個月後就會出現症狀,而晚發型的龐貝氏症病發時間較不一定,但症狀為漸進式發生。本病例報告為一對姊弟,分別於11歲與14歲時診斷龐貝氏症。兩者在診斷後都接受兩週一次的酵素替代治療。兩位姊弟在持續接受酵素替代治療的過程中,分別於2013及2015年接受運動心肺測試。心肺測試的結果顯示,酵素替代治療可穩定甚至改善晚發型的龐貝氏症中的限制性肺疾病情形。除了傳統肺功能測試之外,心肺運動測試具有可在短時間內偵測細微的有氧能力下降的價值,能夠幫助臨床醫師為這類病患及早進行適宜的心肺復健計畫。 |
英文摘要 | In this case report, 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. |
本系統中英文摘要資訊取自各篇刊載內容。