Moore G C, Zwillich C W, Battaglia J D, Cotton E K, Weil J V
N Engl J Med. 1976 Oct 14;295(16):861-5. doi: 10.1056/NEJM197610142951604.
Respiratory failure has been associated with depressed ventilatory responses to hypoxia or hypercapnia or both. The possibility that familial factors are responsible for decreased chemosensitivity prompted this study of a child with unexplained respiratory failure and normal lung function. We found his ventilatory response to hypoxia and hypercapnia to be virtually absent. Studies of six healthy immediate family members (parents and siblings) showed that hypoxic response, as measured by an index of the relation between ventilation and hypoxia (index A), was consistently reduced: 45 +/- 8.7 S.E.M. (normal, 127 +/- 8.7) (P less than 0.005). Response to hypercapnia, measured as the slope of the ventilatory response to hypercapnia, was lower than normal, averaging 0.95 +/- 0.16 liters per minute per millimeter of mercury (normal, 1.76 +/- 0.13) (P less than 0.01). The patient's respiratory failure seemed related to deficient ventilatory responses to hypoxia and hypercapnia. It seems likely that this depressed hypoxic response is of familial origin.
呼吸衰竭与对低氧或高碳酸血症或两者的通气反应降低有关。家族因素导致化学敏感性降低的可能性促使我们对一名肺功能正常但原因不明的呼吸衰竭患儿进行了这项研究。我们发现他对低氧和高碳酸血症的通气反应几乎不存在。对六名健康的直系家庭成员（父母和兄弟姐妹）的研究表明，通过通气与低氧关系指数（指数A）测量的低氧反应持续降低：45±8.7标准误（正常为127±8.7）（P<0.005）。以对高碳酸血症的通气反应斜率衡量的对高碳酸血症的反应低于正常水平，平均为每分钟每毫米汞柱0.95±0.16升（正常为1.76±0.13）（P<0.01）。该患者的呼吸衰竭似乎与对低氧和高碳酸血症的通气反应不足有关。这种降低的低氧反应似乎很可能源于家族。
