[Research advances on late-onset congenital central hypoventilation syndrome]

Zhonghua Er Ke Za Zhi. 2024 Jan 2;62(1):91-93. doi: 10.3760/cma.j.cn112140-20230711-00003.
[Article in Chinese]

Abstract

随着对先天性中枢性低通气综合征(CCHS)认识的不断提高以及基因检查技术的不断完善,儿童CCHS的诊治有了明显改善。然而超过新生儿期起病的迟发性先天性中枢性低通气综合征(LO-CCHS)作为一组特殊的CCHS亚型,由于发病年龄偏晚,症状不典型,不易被临床识别,容易漏诊,亟待全面的诊疗指导。现对儿童LO-CCHS的病因、病理生理、临床特征、诊断、治疗以及预后进行介绍,旨在为提高对LO-CCHS的认识提供依据。.

MeSH terms

  • Homeodomain Proteins
  • Humans
  • Hypoventilation / congenital
  • Hypoventilation / genetics
  • Hypoventilation / therapy
  • Sleep Apnea, Central* / diagnosis
  • Sleep Apnea, Central* / genetics
  • Sleep Apnea, Central* / therapy

Substances

  • Homeodomain Proteins

Supplementary concepts

  • Congenital central hypoventilation syndrome