中国儿童保健杂志 ›› 2022, Vol. 30 ›› Issue (6): 642-645.DOI: 10.11852/zgetbjzz2021-0342

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先天性中枢性低通气综合征发病机制研究现状及干预治疗

余沙1,2, 肖曙芳3, 杨美芬2   

  1. 1.大理大学临床医学院,云南 大理 671000;
    2.楚雄州人民医院新生儿科,云南 楚雄 675000;
    3.昆明市儿童医院重症医学科
  • 收稿日期:2021-03-05 修回日期:2021-06-08 出版日期:2022-06-10 发布日期:2022-06-28
  • 通讯作者: 肖曙芳,E-mailxiaosf62@126.com
  • 作者简介:余沙(1990-),女,云南人,在读硕士研究生,主要研究方向为新生儿疾病。

Research status of pathogenesis of congenital central hypoventilation syndrome and intervention

YU Sha*, XIAO Shu-fang, YANG Mei-fen   

  1. *School of Clinical Medicine, Dali University, Dalian, Yunnan 671000,China; Department of Neonatology, Chuxiong people's Hospital, Chuxiong, Yunnan 675000, China
  • Received:2021-03-05 Revised:2021-06-08 Online:2022-06-10 Published:2022-06-28
  • Contact: XIAO Shu-fang,E-mail:xiaosf62@126.com

摘要: 先天性中枢性低通气综合征(CCHS)是一种罕见的终身性遗传性疾病。目前研究表明,CCHS存在脑功能缺陷、化学感受性呼吸控制障碍与类似配对同源基因(PHOX2B)突变有关。通过对国内外70余例病例报道进行研究与分析,现对CCHS发病机制当前研究现状及干预治疗做一综述,阐述PHOX2B基因突变的谱系,以及PHOX2B基因突变与脑功能缺陷、化学感受性呼吸控制障碍及合并症之间的关系。提高临床及早有效地诊治该病的能力。

关键词: 先天性中枢低通气综合征, 化学感受性呼吸控制障碍, 类似配对同源基因

Abstract: Congenital central hypoventilation syndrome (CCHS) is a rare hereditary disease for life. At present, the research shows that the brain function defect and the chemical sensitive respiratory control disorder of CCHS are related to the mutation of paired-like hemeobox gene 2B (PHOX2B). By reviewing case report of 70 cases of CCHS at home and abroad, this article reviews current research status of CCHS pathogenesis and intervention treatment, expounding the pedigree of PHOX2B gene mutation, and the relationship between PHOX2B gene mutation and brain function defect, chemosensory respiratory control disorder and complications, so as to provide reference for timely and effective diagnosis and treatment of the disease.

Key words: congenital central hypoventilation syndrome, chemosensory respiratory control disorder, paired-like hemeobox gene 2B

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