Hôpital Universitaire Robert Debré, Centre de référence des maladies respiratoires rares, and Université de Paris, Paris, France.
Staffordshire Children's Hospital, Stoke-on-Trent, Staffs and Great Ormond Street Hospital, London, UK.
Orphanet J Rare Dis. 2020 Sep 21;15(1):252. doi: 10.1186/s13023-020-01460-2.
Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS. In recent years, the condition has evolved from a life-threatening neonatal onset disorder to include broader and milder clinical presentations, affecting children, adults and families. Genes other than PHOX2B have been found responsible for CCHS in rare cases and there are as yet other unknown genes that may account for the disease. At present, management relies on lifelong ventilatory support and close follow up of dysautonomic progression. BODY: This paper provides a state-of-the-art comprehensive description of CCHS and of the components of diagnostic evaluation and multi-disciplinary management, as well as considerations for future research.
Awareness and knowledge of the diagnosis and management of this rare disease should be brought to a large health community including adult physicians and health carers.
先天性中枢性肺泡换气不足综合征（CCHS）是一种罕见的疾病，其特征是由于肺泡换气不足导致自主中枢通气控制不足和全身自主神经功能障碍。大多数 CCHS 患者存在配对同源框 2B（PHOX2B）突变。近年来，该疾病已从危及生命的新生儿发病转变为包括更广泛和更轻微的临床表现，影响儿童、成人和家庭。除 PHOX2B 以外的其他基因也被发现可导致罕见病例的 CCHS，目前还有其他未知的基因可能导致该疾病。目前，治疗依赖于终身通气支持和自主神经功能障碍进展的密切随访。
本文提供了 CCHS 以及诊断评估和多学科管理的各个组成部分的最新全面描述，以及对未来研究的考虑。
应该让包括成人医生和医疗保健者在内的广大卫生界了解这种罕见疾病的诊断和管理。
