Airway obstruction in two children with congenital central hypoventilation syndrome and review of the literature

IF 1.3 4区医学 Q3 PEDIATRICS

Archives De Pediatrie Pub Date : 2024-04-01 DOI:10.1016/j.arcped.2023.12.002

Richard Wolff , Benjamin Dudoignon , Jérôme Naudin , Amélia Madani , Christophe Delclaux , Plamen Bokov , Stéphane Dauger

引用次数: 0

Abstract

Congenital central hypoventilation syndrome (CCHS) is an autosomal dominant disease that is caused by heterozygous mutations in the paired-like homeobox 2B gene (PHOX2B). Madani et al. described an abnormally high degree of not only central apnea but also obstructive and mixed apnea in Phox2b^27Ala/+newborn mice. Newborns with CCHS must undergo polysomnography for obstructive respiratory events in order to guide the optimal ventilation strategy if oxygen desaturation, bradycardia, and malaise persist under noninvasive ventilation. Newborns and infants with CCHS must be systematically tested for obstructive apnea, especially in cases of inefficient noninvasive ventilation.

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两名先天性中枢通气不足综合征患儿的气道阻塞及文献综述。

先天性中枢通气不足综合征（CCHS）是一种常染色体显性遗传病，由成对样同源染色体 2B 基因（PHOX2B）的杂合子突变引起。Madani 等人描述了 Phox2b27Ala/+新生小鼠不仅中枢性呼吸暂停异常严重，而且阻塞性和混合性呼吸暂停也异常严重。患有 CCHS 的新生儿如果在无创通气条件下持续出现氧饱和度下降、心动过缓和乏力，则必须进行多导睡眠监测以发现阻塞性呼吸事件，从而指导最佳通气策略。必须对患有 CCHS 的新生儿和婴儿进行系统的阻塞性呼吸暂停检测，尤其是在无创通气效率低下的情况下。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Archives De Pediatrie 医学-小儿科

CiteScore

2.80

自引率

5.60%

发文量

106

审稿时长

24.1 weeks

期刊介绍： Archives de Pédiatrie publishes in English original Research papers, Review articles, Short communications, Practice guidelines, Editorials and Letters in all fields relevant to pediatrics. Eight issues of Archives de Pédiatrie are released annually, as well as supplementary and special editions to complete these regular issues. All manuscripts submitted to the journal are subjected to peer review by international experts, and must: Be written in excellent English, clear and easy to understand, precise and concise; Bring new, interesting, valid information - and improve clinical care or guide future research; Be solely the work of the author(s) stated; Not have been previously published elsewhere and not be under consideration by another journal; Be in accordance with the journal''s Guide for Authors'' instructions: manuscripts that fail to comply with these rules may be returned to the authors without being reviewed. Under no circumstances does the journal guarantee publication before the editorial board makes its final decision. Archives de Pédiatrie is the official publication of the French Society of Pediatrics.