An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome Genetic Basis, Diagnosis, and Management
An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome Genetic Basis, Diagnosis, and Management
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DOI：
10.1164/rccm.200807-1069st
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发表时间：
2010-03-15
影响因子：
24.7
通讯作者：
Trang, Ha
中科院分区：
文献类型：
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作者：
Weese-Mayer, Debra E.;Berry-Kravis, Elizabeth M.;Trang, Ha
背景：先天性中枢性低通气综合征 (CCHS) 的特点是肺泡通气不足和自主神经失调。目的：(1) 证明 PHOX2B 检测在诊断和治疗 CCHS 患者中的重要性，(2) 总结了解 PHOX2B 基因突变如何导致 CCHS 表型的最新进展，以及 (3) 提供 CCHS 患者诊断和治疗建议的最新进展。方法：委员会成员们根据其在 CCHS 方面的专业知识被邀请，并被要求通过独立完成文献检索来回顾科学的现状。委员会成员就建议达成了共识。结果：通过对相关文献的审查，可以编写一份文件，总结理解 CCHS 的最新进展以及专家对受影响患者管理证据的解释。结论：需要 PHOX2B 突变才能确认 CCHS 的诊断。了解特定 PHOX2B 突变有助于预测 CCHS 表型的严重程度。 CCHS 患者的父母应接受 PHOX2B 突变检测。对不明原因的肺泡通气不足病例保持高度怀疑可能会发现较轻的 CCHS 病例发生率较高。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方案包括：(1) 每半年然后每年一次的院内综合评估，包括 (i) 清醒和睡眠状态下的生理研究，以评估不同活动和浓度水平、睡眠各个阶段、自主呼吸和人工通气的通气需求，并评估清醒和睡眠时通气对生理挑战的反应，(ii) 72 小时动态心电图监测，(iii) 超声心动图， (iv) 评估受 ANS 影响的所有器官系统的 ANS 失调，以及 (v) 正式的神经认知评估； (2)有便秘史的患者进行钡剂灌肠或测压和/或直肠全层活检； (3) 基于 PHOX2B 突变的高风险个体的神经嵴肿瘤成像。
Background: Congenital central hypoventilation syndrome (CCHS) is characterized by alveolar hypoventilation and autonomic dysregulation.Purpose: (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.Methods: 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.Results: 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.Conclusions: 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.