Giordano P, Laforgia N, Di Giulio G, Storelli S, Mautone A, Iolascon A
Department of Biomedicine of Evolutive Age, Università Bari, Bari, Italy.
J Perinat Med. 2001;29(2):163-6. doi: 10.1515/JPM.2001.023.
Environmental and genetic risk factors interact to cause venous thromboembolism. Renal vein thrombosis in the newborn has been frequently associated with "risk factors" as catheters, surgery or trauma, but it has also been demonstrated a pathogenetic role of genetic prothrombotic risk factors, i.e. activated protein C resistance and FV Leiden. The treatment of neonatal venous thrombosis varies worldwide and different approaches have been proposed. We present a case of renal vein thrombosis in a female newborn with normal plasma levels of protein C, protein S and antithrombin III, but with her genotype characterized by the presence of three prothrombotic risk factors: factor V Leiden, methylentetrahydrofolate reductase and platelet glycoprotein IIIa polymorphisms. The treatment with recombinant tissue plasminogen determined complete thrombus dissolution.
环境和遗传风险因素相互作用导致静脉血栓栓塞。新生儿肾静脉血栓形成常与诸如导管、手术或创伤等“风险因素”相关，但也已证实遗传促血栓形成风险因素的致病作用，即活化蛋白C抵抗和FV Leiden。新生儿静脉血栓形成的治疗在全球范围内各不相同，并且已经提出了不同的方法。我们报告一例女性新生儿肾静脉血栓形成病例，其血浆蛋白C、蛋白S和抗凝血酶III水平正常，但其基因型具有三种促血栓形成风险因素：因子V Leiden、亚甲基四氢叶酸还原酶和血小板糖蛋白IIIa多态性。重组组织型纤溶酶原治疗使血栓完全溶解。
