Klepper M, Barnard P, Eschenbacher W
Section of Pulmonary and Critical Care Medicine, Baylor College of Medicine, Houston.
Chest. 1991 Sep;100(3):823-5. doi: 10.1378/chest.100.3.823.
In summary, this is a patient who presented with respiratory acidosis and cor pulmonale. The major diagnostic challenge was in differentiating primary cardiopulmonary disease from a central abnormality of ventilatory drive. The arterial blood gases showed a normal A-a gradient suggesting hypoventilation as the etiology of his hypoxemia. Pulmonary function testing showed air trapping, but a relatively normal FEV1/FVC and airways resistance. The literature suggests that most altitude natives have depressed hypoxemic and hypercapnic drives with a distinct subset demonstrating a profoundly depressed drive to ventilation. This latter group has been labeled as having chronic mountain sickness or Monge's disease. As one might expect, ventilatory control during sleep is also abnormal in these patients with CMS. Our patient indeed showed typical frequent severe desaturations with hypopnea. The diagnosis of CMS in our patient was made with routine arterial blood gases and standard pulmonary function tests. Additional tests of ventilatory responsiveness to oxygen and carbon dioxide could have been performed, but are not necessary to make the diagnosis.
总之，这是一位出现呼吸性酸中毒和肺心病的患者。主要的诊断挑战在于区分原发性心肺疾病与通气驱动的中枢异常。动脉血气显示肺泡-动脉血氧分压差正常，提示低通气是其低氧血症的病因。肺功能测试显示有气体潴留，但FEV1/FVC和气道阻力相对正常。文献表明，大多数高原原住民的低氧和高碳酸驱动受到抑制，有一个独特的亚组表现出对通气的驱动严重受抑。后一组被标记为患有慢性高山病或蒙赫病。正如人们所预期的，这些患有慢性高山病的患者在睡眠期间的通气控制也不正常。我们的患者确实表现出典型的频繁严重低氧血症伴呼吸浅慢。通过常规动脉血气和标准肺功能测试对我们的患者做出了慢性高山病的诊断。本可进行额外的对氧气和二氧化碳通气反应性测试，但对做出诊断并非必要。
