摘要 ：
有關純合子抗凝血酶缺乏症患者妊娠結局和治療的數據極少，我們進行了一次回顧性研究，選取八名均為純合子抗凝血酶肝素結合位點缺乏女性(這些女性至少懷孕1次)，這項研究的目的是為了更好了解此類罕見疾病的妊娠結局並在其孕期製定可行性的治療方案。所有患者均為抗凝血酶基因(SERPINC1)391 C>T p.Leu131Phe突變導致凝血酶位點缺乏，這些女性共計懷孕23次，1次因人工流產而排除在外，我們發現22次懷孕中，隻有7次生下活嬰，且均為早產。餘15次不良結局中，7次為早期妊娠丟失，8次為胎死宮內，同時發現治療方案與結局無明確相關性，其中8次妊娠未予任何治療且均以失敗告終。故得出結論，純合子抗凝血酶缺乏，具有嚴重血栓形成傾向，且可致高風險妊娠丟失及早產，妊娠時嚴格抗凝和/或凝血酶替換能改善結局。
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
