疑难病研究——我国首例先天性中枢性低通气综合征的诊治

Diagnosis and treatment of congenital central hypoventilation syndrome: first reported case in China

报道我国首例先天性中枢性低通气综合症 (CCHS)患儿临床诊治情况。患儿胎龄 36周 ,生后第 1天即发病 ,整个临床过程表现为低通气并致高碳酸血症及低氧血症 ,经机械通气后血气迅速恢复正常 ,撤机或降低呼吸机参数后又出现异常血气 ,导致撤机困难。住院第 6天后发现患儿于醒觉期自主呼吸活动增强 ,睡眠期呼吸活动减弱且无呼吸增快 ,并伴体温波动 ,心律失常及胸骨上窝轻度吸气性凹陷 ,参照国外相关文献 ,最后确诊为CCHS ,并以机械通气治疗至住院第 1 4天家属放弃。

This is the first reported case of CCHS in China. The infant, of gestation age 36 weeks, had dyspnea immediately after birth. Through the course of the disease, the infant manifested hypercapnia and hypoxemia induced by hypoventilation. These manifestations were improved by mechanical ventilation. However, abnormal blood gas findings were noted after weaning of ventilatory support or by altering ventilator parameters. On day 6 of his life, the infant's autonomous breathing druing wakefulness improved, with an increase in respiratory rate to 36 times per minute, although hypoventilation still existed. However, during sleep, there was a decrease in the respiratory rate to 15 times per minute, as well as arrhythmia and sternal retractions. The infant survived for 14 days on ventilation support. These symptoms are consistent with previously overseas reported cases of CCHS.