Schlembach Dietmar, Beinder Ernst, Zingsem Juergen, Wunsiedler Ute, Beckmann Matthias W, Fischer Thorsten
Department of Obstetrics and Gynaecology, University of Erlangen-Nuremberg, Universitaetsstrasse 21-23, 91054 Erlangen, Germany.
Clin Sci (Lond). 2003 Sep;105(3):279-85. doi: 10.1042/CS20030073.
This study was conducted to investigate the association of maternal and/or fetal factor V Leiden (FVL) and G20210A prothrombin mutation with HELLP syndrome. FVL and G20210A prothrombin mutation were determined using PCR. Sixty-three pregnant women, 36 of them diagnosed with HELLP syndrome, were included in the study. Overall, 68 children were born as a result of these pregnancies and blood sampling was possible in 28 out of 39 children from HELLP patients and 25 out of 29 children from the control women. The prevalence of a maternal FVL was elevated 2-fold in HELLP patients compared with the control women [six out of 36 (16.7%) compared with two out of 27 (7.4%); P =0.282]. None of the HELLP patients and only one woman in the control group was found to be positive for the G20210A prothrombin mutation (P =0.251). The fetal carrier frequency was four out of 28 compared with three out of 25 for FVL (P =0.811), and two out of 28 compared with one out of 25 for G20210A prothrombin mutation (P =0.629). Intrauterine growth restriction (IUGR) was significantly higher in fetuses found to be positive for a thrombophilic mutation (P =0.022). IUGR occurred in seven out of ten fetuses with a thrombophilic mutation compared with 11 out of 43 in fetuses without a mutation. The prevalence of FVL, but not of the G20210A prothrombin mutation, seems to be elevated in women with HELLP syndrome. A fetal thrombophilic mutation does not contribute significantly to the clinical features of the HELLP syndrome. Our results demonstrate a fetal contribution to IUGR. Fetal thrombophilic mutations may lead to placental microthrombosis, which consecutively could lead to a disturbed fetoplacental blood flow and thus cause growth restriction.
本研究旨在调查孕产妇和/或胎儿的凝血因子V莱顿（FVL）及凝血酶原G20210A突变与HELLP综合征之间的关联。采用聚合酶链反应（PCR）检测FVL和凝血酶原G20210A突变。本研究纳入了63名孕妇，其中36名被诊断为HELLP综合征。这些孕妇共分娩68名儿童，39名HELLP综合征患者的子女中有28名、29名对照女性的子女中有25名可进行血样采集。与对照女性相比，HELLP综合征患者中孕产妇FVL的患病率升高了2倍[36名中有6名（16.7%），而27名中有2名（7.4%）；P =0.28]。HELLP综合征患者中无人检测到凝血酶原G20210A突变阳性，对照组中仅1名女性检测阳性（P =0.251）。FVL的胎儿携带频率为28名中有4名，而对照为25名中有3名（P =0.811）；凝血酶原G20210A突变的胎儿携带频率为28名中有2名，对照为25名中有1名（P =0.629）。血栓形成倾向突变检测呈阳性的胎儿，其宫内生长受限（IUGR）发生率显著更高（P =0.022）。血栓形成倾向突变的胎儿中，10名中有7名发生IUGR，而无突变的胎儿中43名中有11名发生IUGR。HELLP综合征女性中FVL的患病率似乎升高，但凝血酶原G20210A突变的患病率未升高。胎儿血栓形成倾向突变对HELLP综合征的临床特征无显著影响。我们的结果表明胎儿因素与IUGR有关。胎儿血栓形成倾向突变可能导致胎盘微血栓形成，进而可能导致胎儿-胎盘血流紊乱，从而引起生长受限。
