Successful Weaning from Invasive Ventilation in Late-onset Pompe's Disease-A Case Report

晚發型龐貝氏患者成功脫離呼吸器－病例報告

10.29806/TM.200608.0007

郭秋萍(Chiu-Ping Kuo)；林長怡(Chang-Yi Lin)；吳健樑(Chien-Liang Wu)

龐貝氏症 ； 脫離呼吸器 ； pompe's disease ； ventilator weaning

胸腔醫學

21卷4期（2006 / 08 / 01）

349 - 354

英文

龐貝氏症是一種罕見的遺傳疾病，主要影響的是心肌、骨骼肌及呼吸肌的功能，依發生的早晚，可分為早發型及晚發型。早發型通常進展快速，大多數患者在一歲前死亡；而晚發型進展較緩，逐漸影響到日常活動與呼吸功能。我們報告此病例是一位31歲女性，在5年前被診斷是晚发型龐貝氏症，此次因肺炎合併呼吸衰竭而被插管使用呼吸器。經過漸進式的吸氣阻力及增加肌肉的耐力訓練，再加上營養補給，終於成功脫離呼吸器。 雖然在疾病的自然進程中，大多數龐貝氏患者最終會面臨呼吸惡化而縮短壽命，但是在他們因肺部感染導致急性呼吸衰竭時，適度的呼吸肌訓練，加上物理治療及營養補充，來協助其脫離呼吸器，也許需要投入更長的時間與更多的人力，但仍是值得且必須一試的。

Pompe's disease is an autosomal recessive inheritable disorder involving a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). The incidence is 1 in 40,000 births. It predominately affects the heart, skeletal, and respiratory muscles. The clinical spectrum ranges from a rapidly progressive infantile form leading to death within the first year of life to a slowly progressive late-onset form of the disease that affects mobility and respiratory function. Both types are generally characterized by progressive muscle weakness and breathing difficulty, but the severity of the disease can vary widely depending on the age of onset and the extent of organ involvement. Patients with the late-onset form who become symptomatic in childhood are more severely affected and typically die by the second or third decade of life. As the disease progresses, patients lose mobility, or become wheelchair bound or bedridden. Respiratory muscle involvement is common, may occur early in the course of the disease, and is the most frequent cause of mortality. We present the case of a 31-year-old woman who was diagnosed with late-onset Pompe's disease 5 years previously, and who developed pneumonia with acute respiratory failure. She was successfully weaned from the ventilator after intensive respiratory muscle training.