先天性中枢性睡眠相关肺泡低通气

定义

先天性中枢性睡眠相关肺泡低通气综合征（CCHS）是由 PHOX2B 基因突变引起的一种自主神经功能障碍，主要是无法自主中枢控制呼吸。CCHS 的特点是通气不足，睡眠时比清醒时严重。CCHS 通常在婴儿出生时发病，外观正常的婴儿最常见症状出现发绀、喂养困难、肌张力低下或中枢性呼吸暂停，但不常见。严重程度与特定突变有关。病情较轻患者可能要到成年后才引起临床注意。 注：确诊需要证明PHOX2B突变，以及基于多导睡眠呼吸监测和二氧化碳（CO2）监测（通过动脉、呼气末或经皮测量）的客观证据。

Congenital central alveolar hypoventilation syndrome (CCHS) is a disorder of autonomic dysfunction, primarily the failure of automatic central control of breathing, caused by a mutation of the PHOX2B gene. CCHS is characterised by hypoventilation, which is worse during sleep than wakefulness. Onset is usually at birth, and CCHS most commonly presents in an otherwise normal-appearing infant who is noted to have cyanosis, feeding difficulties, hypotonia or, less commonly, central apnoea. Severity is related to the specific mutation present. Individuals with milder variants of the disorder may not present for clinical attention until adulthood. Note: A definitive diagnosis requires demonstration of PHOX2B mutation and objective evidence based on polysomnography with carbon dioxide (CO2) monitoring (by arterial, end-tidal or transcutaneous measures).

索引词 可用于检索该条目的同义词与别名

• 先天性中枢性睡眠相关肺泡低通气
• Ondine综合征
• Ondine呼吸困扰
• 先天性低通气综合征所致新生儿呼吸暂停
• 先天性中枢性低通气综合征
• CCHS[先天性中枢性低通气综合征]
• 先天性中枢性肺泡睡眠相关性低通气