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題名 | Acute Respiratory Failure in Pompe's Disease--A Rare Initial Presentation of a Rare Disease=酸性麥芽糖酵素缺乏症(Pompe's Disease)合併急性呼吸衰竭 |
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作者 | 吳燿光; 林孟志; 陳濘宏; Wu, Kao-kuang; Lin, Meng-chih; Chen, Ning-hung; |
期刊 | 胸腔醫學 |
出版日期 | 19990900 |
卷期 | 14:3 1999.09[民88.09] |
頁次 | 頁109-114 |
分類號 | 415.593 |
語文 | eng |
關鍵詞 | 酸性麥芽糖酵素缺乏症; 呼吸衰竭; 肝醣堆積疾病; Acid maltase deficiency; Acute respiratory failure; Glycogen storage disease; |
中文摘要 | Pompe疾病是一種自體隱性遺傳的代謝性疾病,這是由於酸性麥芽糖酵 素缺乏所導致,且造成肝醣在分解微粒及組織的堆積。晚期緩慢進行的成人型是 相當少見且偶發。一位二十二歲男性病人出現上肢帶肌肉無力、呼吸短促、胸悶 發紺、活動時呼吸困難、以及意識模糊。由於換氣不足呼吸衰竭而進行插管。血 中高磷酸肌酸值班合併肌肉切片證實為酸性麥芽糖酵素缺乏症的診斷。拔管成功 後建議病患採用夜間居家經鼻正壓呼吸器治療及飲食諮詢。 因酸性麥芽糖酵素缺乏症,而導致呼吸衰竭相當少見。當有年輕病患出現呼吸衰 竭,合併周邊肌肉無力則須強烈懷疑。嘗試以非侵襲性正壓呼吸器治療,可作為 替代氣管造廔之治療方式。 |
英文摘要 | Pompe's disease is an autosomal recessive hereditary metabolic disorder due to deficiency of the lysosomal enzyme-acid maltase (a-1,4-glucosidase) which leads to accumulation of glycogen in the lysosomes and diffusely in tissue. The late-onset, acute exacerbation on slowly progressive (adult) form is rare and sporadic. A 22-year-old man was admitted to the intensive care unit with initial presentations of shoulder girdle muscles weakness following markedly exertional dyspnea, chest tightness, cyanotic extremities and consciousness change. Intubation was performed due to acute hypercapnic respiratory failure. No lung parenchymal or airway disease was documented through series of examinations. Meticulous history tracing and elevated creatine phosphoskinase level led us to the suspicion of neuromuscular disorder. By performing muscle biopsy, the diagnosis of acid maltase deficiency was confirmed. After weaning , the patient was received nocturnal nasal continuous positive airway pressure ventilation and diet control. Acute respiratory failure due to glycogen storage disease is rare. High index of suspicion should be raised when a young patient presented with hypercapnic respiratory failure associated with peripheral muscle weakness. Noninvasive mechanical ventilation should be tried instead of direct tracheostomy. |
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