羊水过多时保持警惕;1例Ondine综合征

IF 0.1 Q4 OBSTETRICS & GYNECOLOGY
Maria Pellisé-Tintoré, A. Paltrinieri, A. Abulí, E. Murillo, Ariana Serrano, G. Albaigés
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引用次数: 1

摘要

目的羊水是胎儿正常发育所必需的。在与低胎儿生长相关的严重羊水过多的情况下,必须考虑许多不同的潜在疾病。其中一种情况是先天性中枢性低通气综合征(CCHS)或奥丁诅咒,这是一种由PHOX2B基因突变引起的罕见遗传病。CCHS的发病率估计为20万活产1例。到目前为止,还没有关于宫内期研究结果的出版物。这排除了早期宫内诊断,阻碍了道德上负责任的治疗选择。一个37岁的病人在她的第二次怀孕与一个小的妊娠胎儿和严重的羊水过多在孕晚期超声(美国)研究证实。在美国没有母体糖尿病或胎儿异常的迹象。在紧接产后期间,新生儿出现反复呼吸暂停与紫绀和低反应。新生儿动脉血气测试显示严重的呼吸性酸中毒需要经口气管插管和入院新生儿重症监护病房。在接下来的几天里,所有的影像学和功能检查结果都在正常范围内。鉴定出一种新的致病PHOX2B变异。结论尽管死亡率高,但由于多学科和协调的随访,未记录神经系统后遗症或其他全身性疾病。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Staying alert with polyhydramnios; an Ondine syndrome case
Abstract Objectives Amniotic fluid is essential for proper fetal development. In the case of severe polyhydramnios associated with low fetal growth, a number of different underlying disorders must be considered. One such condition is congenital central hypoventilation syndrome (CCHS) or Ondine’s curse, a rare genetic disease caused by mutation of the PHOX2B gene. The incidence of CCHS is estimated to be 1 case in 200,000 live births. No publications have been made to date on the intrauterine period findings. This precludes an early intrauterine diagnosis and impedes ethically responsible therapeutic options. Case presentation A 37-year-old patient presented in her second pregnancy with a small for gestation fetus and severe polyhydramnios evidenced in the third trimester ultrasound (US) study. There were no previous signs of maternal diabetes or fetal abnormalities at US. During the immediate postpartum period, the newborn presented repeated apneas with cyanosis and hypo-responsiveness. Neonatal arterial blood gas testing revealed severe respiratory acidosis requiring orotracheal intubation and admission to the Neonatal Intensive Care Unit. Over the following days, all imaging and functional test findings were within normal ranges. A de novo pathogenic PHOX2B variant was identified. Conclusions Despite a high mortality rate, no neurological sequelae or other systemic diseases were recorded, thanks to multidisciplinary and coordinated follow-up.
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来源期刊
Case Reports in Perinatal Medicine
Case Reports in Perinatal Medicine OBSTETRICS & GYNECOLOGY-
自引率
0.00%
发文量
37
期刊介绍: Case Reports in Perinatal Medicine is a double-blind peer-reviewed journal. The objective of the new journal is very similar to that of JPM. In addition to evidence-based studies, practitioners in clinical practice esteem especially exemplary reports of cases that reveal specific manifestations of diseases, its progress or its treatment. We consider case reports and series to be brief reports describing an isolated clinical case or a small number of cases. They may describe new or uncommon diagnoses, unusual outcomes or prognosis, new or infrequently used therapies and side effects of therapy not usually discovered in clinical trials. They represent the basic concept of experiences for studies on representative groups for further evidence-based research. The potential roles of case reports and case series are: Recognition and description of new diseases Detection of drug side effects (adverse or beneficial) Study of mechanisms of disease Medical education and audit Recognition of rare manifestations of disease.
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