Altered activation of the diaphragm in late-onset Pompe disease.
Altered activation of the diaphragm in late-onset Pompe disease.
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DOI：
10.1016/j.resp.2015.11.013
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发表时间：
2016-02-01
影响因子：
2.3
通讯作者：
Byrne BJ
中科院分区：
文献类型：
--
作者：
Smith BK;Corti M;Martin AD;Fuller DD;Byrne BJ
庞贝病是一种遗传性神经肌肉疾病，影响呼吸功能并导致依赖外部通气支持。我们使用双侧膈磁刺激研究膈肌的激活，并假设膈肌复合肌动作电位（CMAP）振幅和诱发跨膈压（抽搐PDI）与疾病严重程度相关。8例迟发性Pompe病（LOPD， 14-48岁）患者和4例健康对照者完成了试验。与对照组（1.4 - 17.1 cm H2O, p<0.001）相比，LOPD患者的最大抽搐PDI反应逐渐降低，并与自愿功能测试相关（p<0.05）。此外，与对照组和不使用通气支持的患者相比，使用夜间或全职通气支持的患者的CMAP振幅（mA）更低（p<0.005）。然而，抽搐PDI和CMAP反应的标准化（%峰值）在患者和对照组之间相似。这表明患者功能性膈运动单位的丧失，剩余运动单位的正常募集。
Pompe disease is an inherited neuromuscular disorder that affects respiratory function and leads to dependence on external ventilatory support. We studied the activation of the diaphragm using bilateral phrenic magnetic stimulation and hypothesized that diaphragm compound muscle action potential (CMAP) amplitude and evoked transdiaphragmatic pressure (Twitch PDI) would correlate to disease severity. Eight patients with late onset Pompe disease (LOPD, aged 14–48 years) and four healthy control subjects completed the tests. Maximal Twitch PDI responses were progressively reduced in patients with LOPD compared to control subjects (1.4 – 17.1 cm H2O, p<0.001) and correlated to voluntary functional tests (p<0.05). Additionally, CMAP amplitude (mA) was lower in the patients who used nighttime or fulltime ventilatory support, when compared to controls and patients who used no ventilatory support (p<0.005). However, the normalized (%peak) Twitch PDI and CMAP responses were similar between patients and controls. This suggests a loss of functional phrenic motor units in patients, with normal recruitment of remaining motor units.