Barohn R J, Clanton T, Sahenk Z, Mendell J R
Department of Neurology, Ohio State University College of Medicine, Columbus 43210.
Neurology. 1990 Jan;40(1):103-6. doi: 10.1212/wnl.40.1.103.
Three patients with mitochondrial myopathies and progressive external ophthalmoplegia had repeated episodes of respiratory failure requiring assisted ventilation. Studies in these patients and asymptomatic family members, as well as a sporadic case of Kearns-Sayre syndrome, demonstrated markedly depressed ventilatory drive responses to hypoxia. In 2 patients, there was also decreased drive to hypercapnia. The reduced ventilatory drive appears to be due to an altered neural control system that may cause episodic life-threatening hypoventilation occurring especially in relation to surgery, sedation, or intercurrent infection.
三名患有线粒体肌病和进行性眼外肌麻痹的患者反复出现呼吸衰竭，需要辅助通气。对这些患者及其无症状家庭成员的研究，以及一例散发的凯-赛综合征病例显示，对低氧的通气驱动反应明显降低。在两名患者中，对高碳酸血症的驱动也有所下降。通气驱动降低似乎是由于神经控制系统改变所致，这可能导致特别是在手术、镇静或并发感染时发生危及生命的发作性通气不足。
