Am J Respir Crit Care Med. 2010 Mar 15;181(6):626-44. doi: 10.1164/rccm.200807-1069ST.
Congenital central hypoventilation syndrome (CCHS) is characterized by alveolar hypoventilation and autonomic dysregulation.
(1) To demonstrate the importance of PHOX2B testing in diagnosing and treating patients with CCHS, (2) to summarize recent advances in understanding how mutations in the PHOX2B gene lead to the CCHS phenotype, and (3) to provide an update on recommendations for diagnosis and treatment of patients with CCHS.
Committee members were invited on the basis of their expertise in CCHS and asked to review the current state of the science by independently completing literature searches. Consensus on recommendations was reached by agreement among members of the Committee.
A review of pertinent literature allowed for the development of a document that summarizes recent advances in understanding CCHS and expert interpretation of the evidence for management of affected patients.
A PHOX2B mutation is required to confirm the diagnosis of CCHS. Knowledge of the specific PHOX2B mutation aids in anticipating the CCHS phenotype severity. Parents of patients with CCHS should be tested for PHOX2B mutations. Maintaining a high index of suspicion in cases of unexplained alveolar hypoventilation will likely identify a higher incidence of milder cases of CCHS. Recommended management options aimed toward maximizing safety and optimizing neurocognitive outcome include: (1) biannual then annual in-hospital comprehensive evaluation with (i) physiologic studies during awake and asleep states to assess ventilatory needs during varying levels of activity and concentration, in all stages of sleep, with spontaneous breathing, and with artificial ventilation, and to assess ventilatory responsiveness to physiologic challenges while awake and asleep, (ii) 72-hour Holter monitoring, (iii) echocardiogram, (iv) evaluation of ANS dysregulation across all organ systems affected by the ANS, and (v) formal neurocognitive assessment; (2) barium enema or manometry and/or full thickness rectal biopsy for patients with a history of constipation; and (3) imaging for neural crest tumors in individuals at greatest risk based on PHOX2B mutation.
先天性中枢性肺泡换气不足综合征（CCHS）的特征是肺泡换气不足和自主神经失调。
（1）展示 PHOX2B 检测在诊断和治疗 CCHS 患者中的重要性，（2）总结理解 PHOX2B 基因突变如何导致 CCHS 表型的最新进展，以及（3）更新 CCHS 患者诊断和治疗的建议。
根据在 CCHS 方面的专业知识，邀请委员会成员，并要求他们通过独立完成文献检索来审查当前的科学状况。委员会成员通过协商达成对建议的共识。
对相关文献的审查使人们能够编写一份文件，总结对 CCHS 的最新理解以及对受影响患者管理证据的专家解释。
需要 PHOX2B 突变来确认 CCHS 的诊断。对特定 PHOX2B 突变的了解有助于预测 CCHS 表型的严重程度。CCHS 患者的父母应进行 PHOX2B 突变检测。在不明原因的肺泡换气不足的情况下，保持高度怀疑，可能会发现更多轻度 CCHS 病例。旨在最大限度地提高安全性和优化神经认知结果的推荐管理选项包括：（1）每两年一次，然后每年一次在医院进行全面评估，包括（i）在清醒和睡眠状态下进行生理研究，以评估在不同活动和注意力水平下的通气需求，在所有睡眠阶段，包括自主呼吸，以及在人工通气时，以及在清醒和睡眠时评估对生理挑战的通气反应，（ii）72 小时 Holter 监测，（iii）超声心动图，（iv）评估受自主神经系统影响的所有器官系统的自主神经失调，以及（v）正式的神经认知评估；（2）钡灌肠或测压和/或全层直肠活检，用于有便秘史的患者；（3）根据 PHOX2B 突变，对神经嵴肿瘤风险最高的个体进行成像。
