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保持警与多水;一个Ondine综合征病例

Maria Pellisé-Tintoré¹, Anna Lucia Paltrinieri², Anna Abulí³

¹Department of Obstetrics, Gynaecology and Reproduction, Dexeus Universitary Hospital, Barcelona, Spain.

Case reports in perinatal medicine

|March 5, 2025

概括

先天性中央低通风综合征 (CCHS) 可以通过PHOX2B基因突变来识别. 这一案例突出了CCHS的子宫内发现,使得早期诊断和对受影响新生儿的干预成为可能.

科学领域:

医学遗传学医学遗传学
新生儿科学新生儿科学
周围生理学周围生理学

背景情况:

严重的多水和胎儿生长限制可以表明潜在的胎儿疾病.
在这种情况下,先天性中央低通风综合征 (CCHS) 是由PHOX2B基因突变引起的罕见遗传疾病,是关键考虑因素.
CCHS大约影响20万个活产中的1个,并且以前没有记录过子宫内发现.

研究的目的:

在先天性中央低通风综合征 (CCHS) 的情况下报告子宫内发现.
强调在严重多水和胎儿生长限制的怀孕中考虑CCHS的重要性.
突出早期宫内诊断和治疗干预的潜力.

主要方法:

一个孕妇患有严重多水和小胎儿的病例介绍.
第三个三个月的超声波 (美国) 评估.
新生儿的产后评估,包括血液气体分析和PHOX2B变异的基因检测.

主要成果:

新生儿出现了反复出现的呼吸暂停,蓝色症和呼吸系统酸性症,需要新生儿重症监护.
新生儿的标准成像和功能测试正常.
鉴定出一种新的致病性PHOX2B变体,证实了CCHS的诊断.

结论:

通过子宫内发现早期发现CCHS对于及时干预至关重要.
多学科护理对于管理CCHS和预防长期并发症至关重要.
及时诊断和管理可以导致有利的结果,尽管高死亡率与CCHS相关.

关键词:

翁迪恩的诅咒是什么意思这就是PHOX2B.胚胎液指数是什么意思呼吸暂停症 (apneas) 是一种呼吸暂停症.胎儿生长率较低的胎儿生长率较低的胎儿聚胺的多化物.

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