Fain Mary Ellen, Westbrook Adrianna L, Kasi Ajay S
Department of Pediatrics, Division of Pediatric Pulmonology and Sleep Medicine, Emory University, Children's Healthcare of Atlanta, Atlanta, GA, USA.
Pediatric Biostatistics Core, Department of Pediatrics, Emory University, Children's Healthcare of Atlanta, Atlanta, GA, USA.
Clin Med Insights Pediatr. 2023 May 26;17:11795565231169556. doi: 10.1177/11795565231169556. eCollection 2023.
Congenital central hypoventilation syndrome (CCHS), a rare disease caused by variants in the paired-like homeobox 2B () gene, affects regulation of respiration necessitating lifelong assisted ventilation (AV). Most patients require full-time AV during infancy and some patients may sustain adequate spontaneous ventilation during wakefulness and change AV modalities at a later age. The aims of this study were to assess the changes in duration and modalities of AV, long-term respiratory outcomes, and to correlate them with genotypes.
We conducted a retrospective study of patients with CCHS treated at our institution between January 1997 and May 2022. Results analyzed included: clinical presentation, genotype, modality and duration of AV at diagnosis and follow-up, survival, and transition to adult care.
We identified 30 patients with CCHS-8 with nonpolyalanine repeat mutations (NPARMs), 21 with polyalanine repeat mutations (PARMs), and 1 with unknown genotype. The median age at presentation was 0.25 months (IQR 0.1-0.7 months). At diagnosis of CCHS, 24 (80%) patients required continuous AV and 28 (93%) received AV via tracheostomy. Twenty-six patients required sleep-only AV at a median age of 9 months (IQR 6-14 months). Nine patients requiring sleep-only AV underwent tracheostomy decannulation at a median age of 11.2 years (IQR 5.9-15.7 years) and used noninvasive positive pressure ventilation or diaphragm pacing. There was insufficient evidence to conclude that patients with PARMs and NPARMs differed by age at presentation ( = .39), tracheostomy ( = .06), and transition to sleep-only AV ( = .9). Six patients transitioned to adult care, 23 continued receiving pediatric care, and 1 patient died due to complications from Hirschsprung's disease.
Our study demonstrates prolonged survival and good long-term respiratory outcomes possibly related to the early diagnosis of CCHS, optimizing AV strategies, and multidisciplinary care. The increasing number of patients attaining adulthood highlights the necessity for multidisciplinary care for adults with CCHS.
先天性中枢性低通气综合征（CCHS）是一种由成对样同源盒2B（）基因突变引起的罕见疾病，影响呼吸调节，需要终身辅助通气（AV）。大多数患者在婴儿期需要全时AV，一些患者在清醒时可能维持足够的自主通气，并在以后改变AV方式。本研究的目的是评估AV的持续时间和方式的变化、长期呼吸结局，并将它们与基因型相关联。
我们对1997年1月至2022年5月在我们机构接受治疗的CCHS患者进行了一项回顾性研究。分析的结果包括：临床表现、基因型、诊断和随访时AV的方式和持续时间、生存情况以及向成人护理的过渡。
我们确定了30例CCHS-8患者，其中21例为非聚丙氨酸重复突变（NPARMs），21例为聚丙氨酸重复突变（PARMs），1例基因型未知。就诊时的中位年龄为0.25个月（四分位间距0.1 - 0.7个月）。在CCHS诊断时，24例（80%）患者需要持续AV，28例（93%）通过气管切开术接受AV。26例患者在中位年龄9个月（四分位间距6 - 14个月）时仅在睡眠时需要AV。9例仅在睡眠时需要AV的患者在中位年龄11.2岁（四分位间距5.9 - 15.7岁）时进行了气管切开术拔管，并使用无创正压通气或膈肌起搏。没有足够的证据得出结论，PARMs和NPARMs患者在就诊年龄（P = 0.39）、气管切开术（P = 0.06）以及向仅睡眠时AV的过渡（P = 0.9）方面存在差异。6例患者过渡到成人护理，23例继续接受儿科护理，1例患者因先天性巨结肠并发症死亡。
我们的研究表明，CCHS患者的生存期延长且长期呼吸结局良好，这可能与CCHS的早期诊断、优化AV策略以及多学科护理有关。成年患者数量的增加凸显了对成年CCHS患者进行多学科护理的必要性。
