Sedano-Balbás Sara, Lyons Mark, Cleary Brendan, Murray Margaret, Gaffney Geraldine, Maher Majella
Molecular Diagnostics Research Group, National Centre for Biomedical Engineering Science, National University of Ireland, Galway, Ireland.
J Pregnancy. 2011;2011:232840. doi: 10.1155/2011/232840. Epub 2011 Aug 14.
The combination of thrombophilia and pregnancy increases the risk of thrombosis and the potential for adverse outcomes during pregnancy. The most significant common inherited risk factor for thrombophilia is activated protein C resistance (APCR), a poor anticoagulant response of APC in haemostasis, which is mainly caused by an inherited single-nucleotide polymorphism (SNP), factor V G1691A (FV Leiden) (FVL), referred as inherited APCR. Changes in the levels of coagulation factors: FV, FVIII, and FIX, and anticoagulant factors: protein S (PS) and protein C (PC) can alter APC function causing acquired APCR. Prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T are prothrombotic SNPs which in association with APCR can also increase the risk of thrombosis amongst Caucasians. In this study, a correlation between an acquired APCR phenotype and increased levels of factors V, VIII, and IX was demonstrated. Thrombophilic mutations amongst our acquired APCR pregnant women cohort are relatively common but do not appear to exert a severe undue adverse effect on pregnancy.
易栓症与妊娠并存会增加血栓形成风险以及妊娠期间出现不良结局的可能性。易栓症最主要的常见遗传风险因素是活化蛋白C抵抗（APCR），即活化蛋白C在止血过程中抗凝反应不佳，主要由遗传性单核苷酸多态性（SNP），即因子V G1691A（FV Leiden，FVL）引起，称为遗传性APCR。凝血因子FV、FVIII和FIX以及抗凝因子蛋白S（PS）和蛋白C（PC）水平的变化可改变活化蛋白C的功能，导致获得性APCR。凝血酶原G20210A和亚甲基四氢叶酸还原酶（MTHFR）C677T是促血栓形成的单核苷酸多态性，与APCR相关，在白种人中也会增加血栓形成风险。在本研究中，证实了获得性APCR表型与因子V、VIII和IX水平升高之间存在相关性。在我们的获得性APCR孕妇队列中，易栓症突变相对常见，但似乎并未对妊娠产生严重的不良影响。
