解析胎儿水肿——一种罕见的病症。

Resolving fetal hydrops - A rare entity.

机构信息

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, 226014, Uttar Pradesh, India.

出版信息

Eur J Med Genet. 2023 Dec;66(12):104888. doi: 10.1016/j.ejmg.2023.104888. Epub 2023 Nov 20.

DOI:10.1016/j.ejmg.2023.104888

PMID:37993095

Abstract

Non-immune hydrops fetalis (NIHF) is abnormal accumulation of serous fluid in ≥2 interstitial spaces with no evidence of maternal red cell alloimmunization. Leaving a few treatable conditions, it is generally considered as a sign of poor fetal outcome. Bi-allelic variants in THSD1 have been found to be to be associated with phenotypes ranging from lethal NIHF to persistent edema. Here, we report a family with non-immune hydrops in two successive pregnancies. Whole exome sequencing in second pregnancy identified a homozygous truncating variant in THSD1 (NM_018676:c.892G>T:p.Glu298Ter). Postnatal follow up showed gradual resolution of the accumulated fluid and normal development. This report further strengthens the association of variants in THSD1 with NIHF.

摘要

非免疫性胎儿水肿（NIHF）是指在没有母体红细胞同种免疫证据的情况下，≥2 个间质空间中异常积聚浆液性液体。除了少数可治疗的情况外，它通常被认为是胎儿预后不良的标志。THSD1 的双等位基因变异已被发现与从致死性 NIHF 到持续性水肿等表型相关。在这里，我们报告了一个在连续两次妊娠中出现非免疫性胎儿水肿的家庭。第二次妊娠的全外显子组测序发现了 THSD1 中的纯合截断变异（NM_018676：c.892G>T：p.Glu298Ter）。产后随访显示，积聚的液体逐渐消退，发育正常。本报告进一步证实了 THSD1 变异与 NIHF 的关联。