Clinical and Biomolecular Studies on Thrombophilia in Children.

为了解患儿数量及其临床情况，我们采用问卷调查的方式在全国范围内对儿童血栓形成进行了调查。我们向1319名医生发送了第一份问卷，得到了806份答案（61.1%）。它们是：先天性抗凝血酶（AT）缺乏症137家/190例（15例儿童），蛋白C （PC）缺乏症146/182（27例），蛋白S （PS）缺乏症62/84（16例），肝素辅助因子-效率(hc - iii2 /3（0例），纤溶酶原异常血症65/65+α（7例），纤维蛋白原异常血症47/57（13例），其他16/20（4例），共475/601（82例）。通过第二次问卷调查，我们得到了82例患者中36例（43.9%）的答案。将患者分为两组，儿童期有血栓栓塞事件阳性史21例（at4、PC10、PS7），儿童期有血栓栓塞事件阴性史15例（AT3、PC4、PS8）。前一组性别比为M11: F10。这些事件发生的年龄介于新生儿期和青春期之间。血栓栓塞的主要起始事件为下肢深静脉血栓形成（DVT）、肺血栓栓塞（PTE）、脑栓塞等。实验室检查显示，AT、PC和PS（ⅰ型，杂合子）的活性和抗原多数为中低水平，只有3例PC和PS的活性和抗原极低水平，8例进行了基因分析。在这些病例中，在血栓栓塞的初始事件中使用了几种抗栓药物，在每次诊断建立后，主要使用华法林进行预防治疗。凝血酶原时间- inr和/或血栓试验作为监测来评估良好的止血控制。建议仔细和持续的观察是最重要的是对血栓形成的儿童。其他关于儿童血栓形成的临床和生物分子研究也进行了。

In order to know the patients' number and its clinical conditions, we conducted a nation-wide survey of thrombophilia in children using questionnaire. We sent the first questionnaire to 1, 319 medical doctors and got 806 answers (61.1 %). They are as follows; congenital antithrombin(AT) deficiency 137 families/190 cases (15 children), protein C (PC) deficiency 146/182(27), protein S (PS) deficiency 62/84(16), heparin cofactor-Iiciency (HC-II2/3(0), abnormal plasminogenemia 65/65+α (7), abnormal fibrinogenemia 47/57 (13), others 16/20 (4), and totally 475/601 (82). We got answers of 36 cases (43.9 %) from 82 cases by the 2nd questionnaire. It was divided into 2 groups, positive history of thromboembolic events in childhood, 21 cases (AT 4, PC10, PS7) and negative history of those in childhood, 15 cases (AT3, PC4, PS8). Sex ratio of theformergroup was M11: F10. Age at onset of the events was ranged between newborn period and adlescence. Main initial events of thromboembolism were deep vein thrombosis in lower extremity (DVT), pulmonary thromboembolism (PTE), brain embolism and etc. Laboratory examinations showed medium low levels of activity and antigen of AT, PC and PS (Type I, heterozygote) in the majority of the cases and extremely low levels of those of PC and PS in only 3 cases, gene analysis was performed in 8 cases. Several kinds of antithrombotic agents were used at the in itial events of thromboembolism in these cases and warfarin was mostly applied for prophylaxis treatment after establishment of each diagnosis. Prothrombin time-INR and/or Thrombotest were used as a monitor to evalute good hemostatic control. It is suggested that careful and continuous observation is most important in children with thrombophilia. Other clinical and biomolecular studies on thrombophilia in children were also performed.