Nemaline myopathy as a cause of sleep hypoventilation.
Nemaline myopathy as a cause of sleep hypoventilation.
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线状肌病是睡眠通气不足的原因。
DOI：
10.1542/peds.77.3.390
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发表时间：
1986
期刊：
影响因子：
8
通讯作者：
S. Godfrey
中科院分区：
文献类型：
--
作者：
C. Maayan;C. Springer;Y. Armon;E. Bar‐Yishay;Y. Shapira;S. Godfrey
患有先天性线状肌病的两个兄弟姐妹，一名14.5岁的男孩和他11.5岁的妹妹，表现为严重的呼吸衰竭，在年龄较大的患者中，患有肺心病和系统性高血压。这些儿童最初接受持续机械通气治疗，但几周后，他们只需要在晚上进行呼吸。在治疗开始时，两人都被发现对二氧化碳的换气反应降低，在4到5年的随访治疗中明显改善。他们不可能摆脱夜间机械通风，但在白天，他们上学，功能几乎正常。据推测，线状肌病的呼吸衰竭可能与肌肉无力的严重程度无关，但可能是由于正常呼吸控制所需的反馈紊乱所致。
Two siblings, a 14.5-year-old boy and his 11.5-year-old sister, with congenital nemaline myopathy presented with severe respiratory failure and, in the case of the older patient, with cor pulmonale and systemic hypertension. The children were treated initially by continuous mechanical ventilation, but after a few weeks they only required ventilation at night. At the start of treatment, both were found to have a decreased ventilatory response to CO2 which apparently improved during 4 to 5 years of follow-up treatment. It has not been possible to wean them from nocturnal mechanical ventilation, but during the daytime they attend school and function almost normally. It is postulated that respiratory failure in nemaline myopathy may not be related to the severity of the muscle weakness but may result from a disturbance of the feedback required for normal control of breathing.