摘要 ：

        有关纯合子抗凝血酶缺乏症患者妊娠结局和治疗的数据极少，我们进行了一次回顾性研究，选取八名均为纯合子抗凝血酶肝素结合位点缺乏女性(这些女性至少怀孕1次)，这项研究的目的是为了更好了解此类罕见疾病的妊娠结局并在其孕期制定可行性的治疗方案。所有患者均为抗凝血酶基因(SERPINC1)391 C>T p.Leu131Phe突变导致凝血酶位点缺乏，这些女性共计怀孕23次，1次因人工流产而排除在外，我们发现22次怀孕中，只有7次生下活婴，且均为早产。余15次不良结局中，7次为早期妊娠丢失，8次为胎死宫内，同时发现治疗方案与结局无明确相关性，其中8次妊娠未予任何治疗且均以失败告终。故得出结论，纯合子抗凝血酶缺乏，具有严重血栓形成倾向，且可致高风险妊娠丢失及早产，妊娠时严格抗凝和/或凝血酶替换能改善结局。

        附原文：

        Data regarding outcome and therapy of pregnancies in patients with homozygous antithrombin(AT) deficiency are very rare. We conducted a retrospective, descriptive investigation with emphasis on the obstetric history of eight women with homozygous AT deficiency heparin-binding site (HBS), who had at least one pregnancy. The aim of the study was to get a better insight into the outcome and identify suitable management procedures of pregnancy in this rare disease. All patients suffered from homozygous AT deficiency caused by the mutation c.391C>T p.Leu131Phein the AT gene (SERPINC1). The women reported in total 23 pregnancies; one pregnancy was excluded because of induced abortion. We found that only seven out of the 22 analyzed pregnancies ended with a live infant, all of them were born preterm. Among the 15 negative outcomes, seven were early pregnancy losses and eight were intrauterine fetal deaths. We found no clear association between treatment protocols and outcome. Eight pregnancies were not treated at all; all of them ended with pregnancy loss. We conclude that homozygous AT deficiencyHBS, a form of severe thrombophilia, is associated with high risk of pregnancy loss and preterm delivery. Rigorous anticoagulation and/or replacement of AT during pregnancy may improve the outcome.

        引自：Kraft J, et al. Women with homozygous AT deficiency type II heparin-binding site (HBS) are at high risk ofpregnancy loss and pregnancy complications. Ann Hematol. 2017Jun;96(6):1023-1031. doi: 10.1007/s00277-017-2965-2. Epub 2017 Mar 30.Intra-articular corticosteroids versus intra-articular corticosteroidsplus methotrexate in oligoarticular juvenile idiopathic arthritis: amulticentre, prospective, randomised, open-label trial