Newman R S, Spear G S, Kirschbaum N
Department of Pathology, University of California Irvine Medical Center, Orange 92863-1491, USA.
Obstet Gynecol. 1998 Oct;92(4 Pt 2):702-5. doi: 10.1016/s0029-7844(98)00065-9.
Spontaneous neonatal thrombosis due to heritable gene defects has been reported in the past. A recently discovered defect, the factor V Leiden mutation, is the most frequent inherited risk factor for venous thrombosis.
Factor V Leiden was diagnosed postmortem in a neonate who died from complications of vena caval and aortic thrombosis. Investigation into the family history revealed that the father had a record of multiple thromboses, and blood testing demonstrated that the father had antithrombin deficiency and the mother was heterozygous for factor V Leiden. Although we were unable to demonstrate directly the presence of antithrombin deficiency in the infant, we propose that a combination of the two inherited disorders was likely the cause of fatal neonatal thrombosis.
The present report highlights the importance of a complete prenatal genetic analysis, including factor V Leiden testing and antithrombin measurement in families with a history of thrombotic disorders.
过去曾报道过因遗传性基因缺陷导致的新生儿自发性血栓形成。最近发现的一种缺陷，即因子V莱顿突变，是静脉血栓形成最常见的遗传风险因素。
一名因腔静脉和主动脉血栓形成并发症死亡的新生儿在死后被诊断出患有因子V莱顿突变。对家族病史的调查显示，父亲有多次血栓形成记录，血液检测表明父亲抗凝血酶缺乏，母亲是因子V莱顿杂合子。虽然我们无法直接证明婴儿存在抗凝血酶缺乏，但我们认为这两种遗传性疾病的组合可能是致命新生儿血栓形成的原因。
本报告强调了全面产前基因分析的重要性，包括对有血栓形成疾病家族史的家庭进行因子V莱顿检测和抗凝血酶测量。
