TMA aHUS atypical hemolytic uremic syndrome complement-mediated pregnancy
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摘要

Atypical HUS (aHUS) is a disorder most commonly caused by inherited defects of the alternative pathway of complement, or the proteins that regulate this pathway, and life-threatening episodes of aHUS can be provoked by pregnancy. We retrospectively and prospectively investigated 27 maternal and fetal pregnancy outcomes in 14 women with aHUS from the Vienna Thrombotic Microangiopathy Cohort. Seven pregnancies (26%) were complicated by pregnancy-associated aHUS (p-aHUS), of which three appeared to be provoked by infection, bleeding, and curettage, and three individuals were considered to have preeclampsia/HELLP syndrome before the definitive diagnosis of p-aHUS was made. Mutations in genes that encode the complement alternative pathway proteins or the molecules that regulate this pathway were detected in 71% of the women, with no relationship to pregnancy outcome. Twenty-one pregnancies (78%) resulted in a live birth, two preterm infants were stillborn, and four pregnancies resulted in early spontaneous abortions. Although short-term renal outcome was good in most women, long-term renal outcome was poor; among the 14 women, four had CKD stage 1-4, five had received a renal allograft, and three were dialysis-dependent at study end. We prospectively followed nine pregnancies of four women and treated six of these pregnancies with prophylactic plasma infusions (one pregnancy resulted in p-aHUS, one intrauterine fetal death occurred, and seven pregancies were uneventful). Our study emphasizes the frequency of successful pregnancies in women with aHUS. Close monitoring of such pregnancies for episodes of thrombotic microangiopathy is essential but, the best strategy to prevent these episodes remains unclear.

译文

非典型 HUS (aHUS) 是一种最常见的由补体替代途径的遗传缺陷引起的疾病,或调节该途径的蛋白质, 怀孕可能会引发危及生命的 aHUS 事件。我们回顾性和前瞻性地调查了维也纳血栓性微血管病队列中 14 例 aHUS 妇女的 27 例母体和胎儿妊娠结果。七次妊娠 (26%) 合并了妊娠相关的 aHUS (p-aHUS),其中三次似乎是由感染、出血和刮宫引起的, 在确诊 p-aHUS 之前,有三个人被认为患有先兆子痫/HELLP 综合征。71% 的女性检测到编码补体替代途径蛋白或调节该途径的分子的基因突变,与妊娠结果无关。21 例妊娠 (78%) 导致活产,2 例早产儿死产,4 例妊娠导致早期自然流产。虽然大多数妇女的短期肾脏结果良好,但长期肾脏结果较差; 在这 14 名妇女中,4 名妇女处于慢性肾脏病 1-4 期,5 名妇女接受了同种异体肾移植, 三个在研究结束时依赖透析。我们对四名女性的九次怀孕进行了前瞻性跟踪,并对其中六次怀孕进行了预防性血浆输注治疗 (一次怀孕导致 p-aHUS,一次宫内胎儿死亡,七次怀孕顺利进行)。我们的研究强调 aHUS 女性成功怀孕的频率。对此类妊娠的血栓性微血管病变发作进行密切监测是至关重要的,但预防这些发作的最佳策略仍不清楚。

Hemolytic Uremic Syndrome

儿科 血液 疾病
概述  :  

溶血尿毒综合征(HUS)属于血栓性微血管性疾病。以微血管性溶血性贫血(可找到红细胞碎片)、血小板减少、肾功能损伤为特点。微血栓主要分布于肾脏。感染、多种毒素、抗内皮细胞抗体、药物等因素使内皮损伤是发病的关键。近年来随着对HUS的病因和发病机制有了新的认识,输注血浆和血浆置换是目前治疗HUS最有效的方法,已大大提高了HUS患者的生存率。分类及分型根据起病时临床表现及病因可分为典型HUS、非典型HUS;根据其发病时临床表现是否包含全部三联征分为完全型、部分型。临床表现一般症状:多数患儿有乏力、

hemolytic 英 /hi:'mɔlitik/ 美 /hi:'mɔlitik/

释    义   adj. [生理][免疫] 溶血的

例    句   To compare the prediction effect on hemolytic disease of the newborn between monocyte monolayer assay and antibody titre. 目的应用单核细胞单层试验和抗体效价测定试验预判新生儿溶血病的效果比较。

 

uremic 英 /ju'ri:mik/  美 /ju'ri:mik/

释    义   adj. [泌尿] 尿毒症的

例    句   There are abnormal changes of coagulation and fibrinolysis system in uremic patients with chronic renal failure, which are increased during hemodialysis. 尿毒症患者存在着凝血与纤溶系统的异常改变,血液透析可以使这种变化更加明显。

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