Albisetti Manuela, Moeller Alexander, Waldvogel Katharina, Bernet-Buettiker Vera, Cannizzaro Vincenzo, Anagnostopoulos Alexia, Balmer Christian, Schmugge Markus
Division of Hematology, University Children's Hospital, Zurich, Switzerland.
Acta Haematol. 2007;117(3):149-55. doi: 10.1159/000097462. Epub 2006 Dec 6.
To evaluate the prevalence of congenital prothrombotic disorders in children with peripheral venous and arterial thromboses.
Deficiencies in antithrombin (AT), proteins C (PC) and S (PS), and increased lipoprotein (a), and the presence of factor V (FV) G1691A, prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) mutations were investigated.
Forty-eight patients (mean age, 3.4 years) were investigated. Of these patients, 23 had venous thrombosis, 22 had arterial thrombosis, and 3 had both. No patients had AT, PC or PS deficiency. FV G1691A mutation was present in 2 (7.6%) and 3 (12%) patients with venous and arterial thromboses, respectively. The prothrombin G20210A mutation was present in 1 (4%) patient with arterial thrombosis. Homozygous MTHFR C677T mutation was detected in 4 (18%) and 2 (9%) patients with venous and arterial thromboses, respectively. Increased lipoprotein (a) was present in 2 (10%) and 1 (4.5%) patients with venous and arterial thromboses, respectively. Regarding acquired risk factors, 79% of all thrombotic events were related to catheter usage. An underlying disease was present in 96% of the patients.
Compared to acquired risk factors, congenital prothrombotic disorders are rarely present in children with peripheral venous and arterial thromboses. These results do not support general screening of children with venous and arterial thromboses for congenital prothrombotic disorders.
评估外周静脉和动脉血栓形成患儿先天性血栓前状态疾病的患病率。
研究抗凝血酶（AT）、蛋白C（PC）和蛋白S（PS）缺乏、脂蛋白（a）升高以及因子V（FV）G1691A、凝血酶原G20210A和亚甲基四氢叶酸还原酶（MTHFR）突变的情况。
对48例患者（平均年龄3.4岁）进行了研究。其中，23例有静脉血栓形成，22例有动脉血栓形成，3例两者皆有。所有患者均无AT、PC或PS缺乏。FV G1691A突变分别在2例（7.6%）静脉血栓形成患者和3例（12%）动脉血栓形成患者中出现。凝血酶原G20210A突变在1例（4%）动脉血栓形成患者中出现。纯合子MTHFR C677T突变分别在4例（18%）静脉血栓形成患者和2例（9%）动脉血栓形成患者中检测到。脂蛋白（a）升高分别在2例（10%）静脉血栓形成患者和1例（4.5%）动脉血栓形成患者中出现。关于获得性危险因素，所有血栓形成事件的79%与导管使用有关。96%的患者存在基础疾病。
与获得性危险因素相比，外周静脉和动脉血栓形成患儿很少存在先天性血栓前状态疾病。这些结果不支持对静脉和动脉血栓形成患儿常规筛查先天性血栓前状态疾病。
