Research status of pathogenesis of congenital central hypoventilation syndrome and intervention

doi:10.11852/zgetbjzz2021-0342

Abstract

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

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

CLC Number:

R725.9

YU Sha, XIAO Shu-fang, YANG Mei-fen. Research status of pathogenesis of congenital central hypoventilation syndrome and intervention[J]. Chinese Journal of Child Health Care, 2022, 30(6): 642-645.

余沙, 肖曙芳, 杨美芬. 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[J]. 中国儿童保健杂志, 2022, 30(6): 642-645.

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