先天性中枢性低通气的幼儿无创通气及7年随访
Noninvasive ventilation in a young infant with congenital central hypoventilation and 7-year follow-up.
作者信息
Xu Zhifei, Wu Yunxiao, Li Bei, Zheng Li, Liu Jingyuan, Shen Kunling
机构信息
Department of Respiratory Medicine Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing China.
Beijing Key Laboratory of Pediatric Otolaryngology, Head and Neck Surgery Beijing Pediatric Research Institute Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing China.
出版信息
Pediatr Investig. 2019 Dec 21;3(4):261-264. doi: 10.1002/ped4.12167. eCollection 2019 Dec.
INTRODUCTION
Congenital central hypoventilation syndrome (CCHS) is a rare disorder characterized by alveolar hypoventilation and autonomic system dysregulation secondary to mutations of the gene. Treatment consists of assisted ventilation using positive-pressure ventilators via tracheostomy, bi-level positive airway pressure (BPAP) via a noninvasive interface, negative-pressure ventilators, or diaphragm pacing. The long-term use of BPAP in younger children at home has been less frequently reported.
CASE PRESENTATION
We present a case of a 2-month-old infant with CCHS who was successfully managed by BPAP without the need for tracheostomy and followed up for 7 years.
CONCLUSION
CCHS is a rare disease that manifests as nocturnal desaturation and carbon dioxide retention in early life. Noninvasive ventilation can be successfully used in young infants via an appropriate mask.
引言
先天性中枢性低通气综合征（CCHS）是一种罕见疾病，其特征为肺泡低通气以及继发于该基因突变的自主神经系统失调。治疗方法包括通过气管造口术使用正压通气机进行辅助通气、通过无创接口使用双水平气道正压通气（BPAP）、使用负压通气机或膈肌起搏。在家中对年幼儿童长期使用BPAP的报道较少。
病例报告
我们报告一例2个月大的CCHS婴儿，通过BPAP成功治疗，无需气管造口术，并随访了7年。
结论
CCHS是一种罕见疾病，在生命早期表现为夜间低氧血症和二氧化碳潴留。通过合适的面罩，无创通气可成功用于年幼儿童。
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