Research status of pathogenesis of congenital central hypoventilation syndrome and intervention

YU Sha; XIAO Shu-fang; YANG Mei-fen

doi:10.11852/zgetbjzz2021-0342

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Chinese Journal of Child Health Care ›› 2022, Vol. 30 ›› Issue (6) : 642-645. DOI: 10.11852/zgetbjzz2021-0342

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Research status of pathogenesis of congenital central hypoventilation syndrome and intervention

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

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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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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 https://doi.org/10.11852/zgetbjzz2021-0342

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