Marcus C L, Bautista D B, Amihyia A, Ward S L, Keens T G
Division of Neonatology and Pediatric Pulmonology, Childrens Hospital Los Angeles, University of Southern California School of Medicine 90027.
Pediatrics. 1991 Nov;88(5):993-8.
Congenital central hypoventilation syndrome (CCHS, Ondine's curse) is generally thought to be due to insensitivity of the central chemoreceptors to carbon dioxide. Children with CCHS have absent ventilatory responses to both hypercapnea and hypoxia, suggesting either abnormal central and peripheral chemoreceptor function or abnormal central integration of chemoreceptor input. Because ventilatory and arousal responses to respiratory stimuli are distinct from each other, if children with CCHS have complete chemoreceptor dysfunction, one would predict that both ventilatory and arousal responses to respiratory stimuli would be abnormal. However, if they have abnormal central integration of chemoreceptor input for ventilation, they may still arouse to respiratory stimuli despite the absence of a ventilatory response. Hypercapneic arousal responses were tested in eight children with CCHS, aged 5.8 +/- 1.2 (SEM) years, and seven healthy control subjects, aged 4.4 +/- 1.1 years. Children were studied during sleep while normal ventilation was maintained using their home ventilators. Hypercapneic challenges were performed by rapidly increasing the inspired carbon dioxide tension to 60 mm Hg and maintaining this level until the child aroused or for a maximum of 3 minutes. Of children with CCHS, 87.5% aroused to hypercapnea, compared with 100% of control children. There was no significant difference in arousal between children with CCHS and normal control subjects. It is concluded that most children with CCHS arouse to hypercapnea, indicating the presence of some central chemoreceptor function. It is speculated that because these children do respond to hypercapnea, the most probable mechanism for CCHS is a brainstem lesion in the area where input from both chemoreceptors is integrated.
先天性中枢性低通气综合征（CCHS，翁丁氏咒诅）一般被认为是由于中枢化学感受器对二氧化碳不敏感所致。患有CCHS的儿童对高碳酸血症和低氧血症均无通气反应，这表明中枢和外周化学感受器功能异常或化学感受器输入的中枢整合异常。由于对呼吸刺激的通气反应和觉醒反应彼此不同，如果患有CCHS的儿童存在完全的化学感受器功能障碍，那么可以预测他们对呼吸刺激的通气反应和觉醒反应都会异常。然而，如果他们在通气方面存在化学感受器输入的中枢整合异常，那么尽管没有通气反应，他们仍可能对呼吸刺激产生觉醒。对8名年龄为5.8±1.2（标准误）岁的CCHS患儿和7名年龄为4.4±1.1岁的健康对照者进行了高碳酸血症觉醒反应测试。在患儿睡眠期间进行研究，同时使用家用呼吸机维持正常通气。通过迅速将吸入二氧化碳分压提高到60 mmHg并维持该水平直至患儿觉醒或最长3分钟来进行高碳酸血症激发试验。患有CCHS的患儿中，87.5%对高碳酸血症有觉醒反应，而对照儿童的这一比例为100%。CCHS患儿与正常对照者在觉醒方面无显著差异。结论是大多数CCHS患儿对高碳酸血症有觉醒反应，表明存在一些中枢化学感受器功能。据推测，由于这些患儿确实对高碳酸血症有反应，CCHS最可能的机制是在整合来自两种化学感受器输入的脑干区域存在病变。
