儿童先天性中枢性低通气综合征诊治进展

Congenital central hypoventilation syndrome diagnosis and treatment

先天性中枢性低通气综合征（congenitcentralhypoventilationsyndrome，CCHS）是一种以先天性呼吸控制障碍和自主神经系统缺陷为主的罕见病，全球发病率约为1／200000。患者对高碳酸血症及低氧血症的敏感性降低，其典型表现是患者觉醒时可以维持通气但睡眠时出现通气不足。目前推荐将PHOX2B基因诊断作为其主要确诊方法。CCHS治疗的关键是要保证充足的通气和氧合，有效措施包括正压通气、负压通气、膈肌起搏。药物对抗突变蛋白的毒性作用以及应用孕激素改善通气是目前研究较多的新型药物治疗方向。该文对CCHS病理生理研究及诊断和治疗方面的进展进行综述。

Congenital central hypoventilation syndrome （CCHS）is a rare disorder characterized by hy- poventilation during sleep and blunted ventilatory responses to hypercapnia and hypoxemia. It is normally found in neonatal and infant. Late-onset cases have been reported recently. The paired-like homeobox gene PHOX2B is the disease-defining gene for CCHS ; a mutation in the PHOX2B gene is requisite to the diagnosis of CCHS. As a lifelong disease, the key treatment is ensuring adequate ventilation and oxygenation, effective rnodalities include positive pressure ventilation, negative pressure ventilation and diaphragmatic pacing. The strategy of anti-mutant protein and the use of progestin open up clinical perspectives to enhance ventilation in CCHS patients.