先天性铁母细胞贫血的产前表现为严重的胎儿贫血。

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL
Kelly Ng, Michelle Rougerie, Daniel Lorber Rolnik
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引用次数: 0

摘要

病因不明的严重胎儿贫血会给诊断带来挑战。胎儿贫血的罕见原因包括先天性铁母细胞贫血(CSA),这是一组罕见的疾病,通常在婴儿期和幼儿期表现出来。本病例报告描述了在同一妇女产前出现的三例合并CSA的妊娠。索引病例是一对双胞胎怀孕,其中两个新生儿出生时都严重贫血,其中一个幸存下来。随后的严重胎儿贫血病例在怀孕期间被发现,并成功地通过宫内输血(IUTs)进行管理。三名幸存的儿童需要多次新生儿输血,后来被诊断为CSA。据我们所知,这是第一个描述存活患者在产前出现CSA的病例报告,因此强调了在妊娠早期考虑胎儿贫血的重要性,以及早期干预IUTs以改善这组患者生存结果的潜力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Antenatal presentations of congenital sideroblastic anaemia as severe fetal anaemia.

Severe fetal anaemia of unknown aetiology can present a diagnostic challenge. Rare causes of fetal anaemia include congenital sideroblastic anaemia (CSA), a rare group of disorders that typically manifest during infancy and early childhood. This case report describes three pregnancies complicated by CSA presenting antenatally in the same woman. The index case was a twin pregnancy in which both neonates were born severely anaemic with one surviving twin. The subsequent cases of severe fetal anaemia were detected during pregnancy and successfully managed with intrauterine blood transfusions (IUTs). The three surviving children required several neonatal transfusions and were later diagnosed with CSA. To our knowledge, this is the first case report describing CSA presenting in the antenatal period with surviving patients and thereby highlights the importance of considering fetal anaemia early in pregnancy and the potential for early intervention with IUTs to improve survival outcomes in this group of patients.

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来源期刊
BMJ Case Reports
BMJ Case Reports Medicine-Medicine (all)
CiteScore
1.40
自引率
0.00%
发文量
1588
期刊介绍: BMJ Case Reports is an important educational resource offering a high volume of cases in all disciplines so that healthcare professionals, researchers and others can easily find clinically important information on common and rare conditions. All articles are peer reviewed and copy edited before publication. BMJ Case Reports is not an edition or supplement of the BMJ.
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