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[两名迟发性先天性中枢性低通气综合征患儿]

[Two children with late-onset congenital central hypoventilation syndrome].

作者信息

Qiu Shuyao, Yang Liqiang, Zhong Jianwen, Luo Xiangqian, Liu Dabo

机构信息

Pediatric Otolaryngology Department of Shenzhen Hospital,Southern Medical University,Shenzhen,518000,China.

出版信息

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2023 Aug;37(8):656-657;666. doi: 10.13201/j.issn.2096-7993.2023.08.011.

DOI:10.13201/j.issn.2096-7993.2023.08.011
PMID:37551575
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10645523/
Abstract

Two children with late-onset congenital central hypoventilation syndrome were reported, one of whom was male and had no abnormal manifestations after birth, respiratory failure occurs at the age of 1 year and 6 months. After being hospitalized, he was treated with oxygen inhalation and non-invasive ventilation, but carbon dioxide retention could not be corrected. After one month of tracheal intubation, he was failure to wean from ventilator, so tracheostomy was performed. He needs a ventilator to help breath while sleeping, and can breath autonomously during the day without ventilator. The other case was a female, with no abnormalities after birth. At the age of 11 months, she developed respiratory failure. During sleep, the child needs non-invasive assisted ventilation through a nasal mask, and during the day, she breathed autonomously.Two patients were followed up forever 2 years and their growth and development were normal.

摘要

报道了两名迟发性先天性中枢性低通气综合征患儿,其中一名为男性,出生后无异常表现,1岁6个月时发生呼吸衰竭。住院后,给予吸氧及无创通气治疗,但二氧化碳潴留无法纠正。气管插管1个月后,脱机失败,遂行气管切开术。他睡觉时需要呼吸机辅助呼吸,白天可自主呼吸。另一例为女性,出生后无异常。11个月时出现呼吸衰竭。睡眠期间,患儿需要通过鼻面罩进行无创辅助通气,白天可自主呼吸。两名患者随访2年,生长发育正常。

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2
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J Med Case Rep. 2015 Jun 25;9:149. doi: 10.1186/s13256-015-0631-7.
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本文引用的文献

1
The genetics of congenital central hypoventilation syndrome: clinical implications.先天性中枢性低通气综合征的遗传学:临床意义。
Appl Clin Genet. 2018 Nov 15;11:135-144. doi: 10.2147/TACG.S140629. eCollection 2018.
2
Adult With Mutation and Late-Onset Congenital Central Hypoventilation Syndrome.成人伴突变和晚发性先天性中枢性肺泡换气不足综合征。
J Clin Sleep Med. 2018 Dec 15;14(12):2079-2081. doi: 10.5664/jcsm.7542.
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Congenital central hypoventilation syndrome: diagnostic and management challenges.先天性中枢性低通气综合征:诊断与管理挑战
Pediatric Health Med Ther. 2016 Aug 18;7:99-107. doi: 10.2147/PHMT.S95054. eCollection 2016.
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Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.PHOX2B基因第1外显子中的无义致病性变异导致先天性中枢性低通气综合征中的翻译重新起始。
Am J Med Genet A. 2017 May;173(5):1200-1207. doi: 10.1002/ajmg.a.38162. Epub 2017 Mar 29.
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Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review.先天性中枢性低通气综合征合并先天性巨结肠:病例报告及文献复习
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[Congenital central hypoventilation syndrome: analysis of PHOX2B gene mutation in a case].[先天性中枢性低通气综合征:1例PHOX2B基因突变分析]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Oct;32(5):665-9. doi: 10.3760/cma.j.issn.1003-9406.2015.05.012.
7
Using non-invasive bi-level positive airway pressure ventilator via tracheostomy in children with congenital central hypoventilation syndrome: two case reports.先天性中枢性低通气综合征患儿经气管造口术使用无创双水平气道正压通气机:两例报告
J Med Case Rep. 2015 Jun 25;9:149. doi: 10.1186/s13256-015-0631-7.
8
Central Hypoventilation Syndromes.中枢性通气不足综合征
Sleep Med Clin. 2014 Mar 1;9(1):105-118. doi: 10.1016/j.jsmc.2013.10.005.
9
Diagnostic practices and disease surveillance in Canadian children with congenital central hypoventilation syndrome.加拿大先天性中枢性低通气综合征患儿的诊断实践和疾病监测。
Can Respir J. 2013 May-Jun;20(3):165-70. doi: 10.1155/2013/594859.
10
Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene.由于PHOX2B基因杂合多聚丙氨酸重复扩增突变导致的迟发性中枢性低通气综合征
Oman Med J. 2011 Sep;26(5):356-8. doi: 10.5001/omj.2011.87.