先天性中枢性低通气综合征1例并文献复习
A Case Report and Literature Review of Congenital Central Hypoventilation Syndrome
DOI: 10.12677/acm.2025.15123383, PDF,   
作者: 杨 萌：西安医学院第二附属医院新生儿科，陕西 西安；卞伟妮*：西安医学院第二附属医院儿科，陕西 西安
关键词: 先天性中枢性低通气综合征；PHOX2B基因；睡眠相关低通气；呼吸控制障碍；遗传机制；Congenital Central Hypoventilation Syndrome； PHOX2B Gene； Sleep-Related Hypoventilation； Respiratory Control Disorder； Genetic Mechanisms
摘要: 现报告本院收治的1例早产儿合并CCHS的患儿的临床资料并全面综述CCHS的研究现状，从遗传基础、病理生理机制到临床管理的最新进展，特别关注LO-CCHS、新致病基因的发现以及潜在的治疗靶点，为临床实践和未来研究方向提供参考。
Abstract: We report a case of a preterm infant diagnosed with congenital central hypoventilation syndrome (CCHS) and provide a comprehensive review of the current literature on CCHS, covering its genetic basis, pathophysiological mechanisms, and advances in clinical management. Particular attention is given to late-onset CCHS (LO-CCHS), the identification of novel pathogenic genes, and potential therapeutic targets, aiming to inform clinical practice and guide future research directions.
文章引用：杨萌, 卞伟妮. 先天性中枢性低通气综合征1例并文献复习[J]. 临床医学进展, 2025, 15(12): 83-91. https://doi.org/10.12677/acm.2025.15123383

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