Giovanni Larciprete, Antonio Angelucci Piero, Danilo Celleno, Stefano Gioia, Therese Deaibess, Elisabetta Romanini Maria, Letizia Brienza, Elio Cirese, Domenico Arduini
AFaR, Associazione Fatebenefratelli per la Ricerca, Ospedale Fatebenefratelli Isola Tiberina, Rome, Italy; ; Department of Perinatal Medicine, Tor Vergata University, Rome, Italy;
Int J Biomed Sci. 2007 Sep;3(3):168-75.
Inherited thrombophilia is believed to be a multiple gene disease with more than one defect. We wanted to determine the association between single thrombophilic patterns and a variety of pregnancy diseases. 301 pregnant women were recruited for the present case-control study and were divided into two groups: A group (176 controls) and B group (125 cases). Patients belonging to the B group had one of the following: severe preeclampsia, HELLP syndrome, gestational hypertension, fetal growth restriction (FGR), intrauterine death, abruptio placentae, placenta previa, disseminated intravascular coagulopathy (DIC) and preterm labour. To detect MTHFR A1298C, MTHFR C677T, Factor V Leiden, PAI-1, Mutant Prothrombin G20210A, an inverse hybridization technology was used. Plasma homocysteine, Antithrombin III and protein levels S were determined. A modified functional activated protein C resistance was assayed. MTHFR C677T and hyperhomocysteinemia were more numerous than other thrombophilias. Deficiency in AT III was significantly linked with preeclampsia (Pearson Index and p value: 0.131 and 0.022, respectively) and disseminated intravascular coagulopathy (Pearson Index and p value: 0.138 and 0.016 respectively). Activated Protein C resistance was related to abruptio placentae (Pearson Index and p value: 0.159 and 0.005 respectively). Apart from the linkage between AT III deficiency and the occurrence of preeclampsia and disseminated intravascular coagulopathy, we obtained findings in contrast to some literature. In our case series, no association of preeclampsia with Factor V Leiden or with prothrombin gene mutation was found.
遗传性血栓形成倾向被认为是一种具有多种缺陷的多基因疾病。我们想确定单一血栓形成倾向模式与多种妊娠疾病之间的关联。本病例对照研究招募了301名孕妇,并将其分为两组:A组(176名对照)和B组(125例病例)。B组患者患有以下疾病之一:重度子痫前期、HELLP综合征、妊娠期高血压、胎儿生长受限(FGR)、宫内死亡、胎盘早剥、前置胎盘、弥散性血管内凝血(DIC)和早产。采用反向杂交技术检测MTHFR A1298C、MTHFR C677T、凝血因子V莱顿突变、PAI - 1、凝血酶原G20210A突变。测定血浆同型半胱氨酸、抗凝血酶III和蛋白S水平。检测改良的功能性活化蛋白C抵抗。MTHFR C677T和高同型半胱氨酸血症比其他血栓形成倾向更为常见。抗凝血酶III缺乏与子痫前期(Pearson指数和p值分别为0.131和0.022)和弥散性血管内凝血(Pearson指数和p值分别为0.138和0.016)显著相关。活化蛋白C抵抗与胎盘早剥相关(Pearson指数和p值分别为0.159和0.005)。除了抗凝血酶III缺乏与子痫前期和弥散性血管内凝血发生之间的联系外,我们的研究结果与一些文献报道相反。在我们的病例系列中,未发现子痫前期与凝血因子V莱顿突变或凝血酶原基因突变有关。