a Children's Hospital Los Angeles , Division of Pediatric Pulmonology and Sleep Medicine , Los Angeles , USA.
b Physiology and Biophysics , Keck School of Medicine of the University of Southern California , Los Angeles , USA.
Expert Rev Respir Med. 2018 Apr;12(4):283-292. doi: 10.1080/17476348.2018.1445970. Epub 2018 Feb 28.
Congenital central hypoventilation syndrome (CCHS) is a rare disorder defined by a failure in autonomic control of breathing secondary to mutations of the PHOX2B gene. Affected individuals demonstrate absent or diminished physiologic response to hypercapnia and hypoxia that is most severe during sleep as well as multi-system dysregulation of autonomic functions. Areas covered: In this review, we will discuss how evaluation of the disease-defining PHOX2B gene aids diagnosis and helps prognosticate disease severity, review disease physiology, describe clinical presentation and various aspects of autonomic nervous system dysregulation, review ventilatory strategies, and highlight current challenges in the care of these complex patients. Expert commentary: CCHS is a rare disorder that requires a high degree of vigilance. PHOX2B mutation is essential for diagnosis and also helps direct disease management. There is currently no pharmacologic treatment proven effective in improving disease-related hypoventilation and care is focused on providing adequate ventilatory support and managing autonomic dysfunction.
先天性中枢性低通气综合征（CCHS）是一种罕见疾病，其特征是由于 PHOX2B 基因突变导致呼吸自主控制失败。受影响的个体表现出对高碳酸血症和缺氧的生理反应缺失或减弱，这种情况在睡眠期间最为严重，同时还伴有自主神经功能的多系统失调。涵盖领域：在这篇综述中，我们将讨论评估疾病定义性的 PHOX2B 基因如何有助于诊断和预测疾病严重程度，回顾疾病生理学，描述临床表现和自主神经系统失调的各个方面，综述通气策略，并强调这些复杂患者护理中的当前挑战。专家评论：CCHS 是一种罕见疾病，需要高度警惕。PHOX2B 突变对于诊断至关重要，并且有助于指导疾病管理。目前尚无经证实可有效改善与疾病相关的通气不足的药物治疗，护理重点是提供足够的通气支持和管理自主神经功能障碍。
