Grubbauer H M, Haidmayer R, Reiterer F, Schöber J G, Zobel G
Univ.-Kinderklinik Graz.
Klin Padiatr. 1988 Sep-Oct;200(5):388-92. doi: 10.1055/s-2008-1033739.
Primary central alveolar hypoventilation (CAHV) is a rare disorder described in newborns, children, and adults. We report a 2 9/12 year old child with CAHV of unknown etiology. The evaluation of her ventilatory control system showed abnormalities awake and in the different sleep states. Hypoventilation was found to be more severe during non-REM sleep than during REM sleep and awake state. She had central apnea, an irregular respiratory rhythm in the non-REM sleep too, and diminished ventilatory response to inhaled 5%-6% CO2 in both REM and non-REM sleep. Her ventilation decreased when she was breathing 50% and 100% oxygen. During breathing 15% oxygen she did not arouse in spite a transcutaneous pO2 of 10 mmHg. She was first treated with mechanical ventilation during sleep and has now received bilateral simultaneous phrenic pacemaker support during quiet sleep for about one year. With the phrenic pacemaker she has normal minute volume and transcutaneous blood gases during sleep. During a respiratory infection she needed again mechanical ventilation via her tracheostoma 24 hours a day for one week. This case of a CAHV demonstrates a dysfunction of the central and partially also of the peripheral chemoreceptors. The abnormalities of the ventilation were demonstrable not only in the non-REM sleep but also in the REM sleep and awake state.
原发性中枢性肺泡低通气（CAHV）是一种在新生儿、儿童和成人中均有描述的罕见疾病。我们报告了一名2岁9个月大病因不明的CAHV患儿。对其通气控制系统的评估显示，在清醒状态及不同睡眠状态下均存在异常。发现非快速眼动（NREM）睡眠期间的低通气比快速眼动（REM）睡眠和清醒状态下更为严重。她存在中枢性呼吸暂停，在NREM睡眠中呼吸节律也不规则，并且在REM和NREM睡眠中对吸入5%-6%二氧化碳的通气反应均减弱。当她呼吸50%和100%氧气时，通气量下降。在呼吸15%氧气时，尽管经皮氧分压为10 mmHg，她仍未觉醒。她最初在睡眠期间接受机械通气治疗，目前在安静睡眠期间接受双侧同时膈神经起搏器支持约一年。使用膈神经起搏器后，她在睡眠期间分钟通气量和经皮血气正常。在呼吸道感染期间，她再次需要通过气管造口每天24小时进行一周的机械通气。这例CAHV病例显示了中枢以及部分外周化学感受器功能障碍。通气异常不仅在NREM睡眠中明显，在REM睡眠和清醒状态下也很明显。
