Clinical and Biomolecular Studies on Thrombophilia in Children.

为了解儿童血栓形成倾向的患病人数及临床情况，采用问卷调查法对全国儿童血栓形成倾向进行调查。第一次问卷调查共有1319名医生参加，共收到806份（61.1%）.它们是：先天性抗凝血酶缺乏症137个家系/190例蛋白C（PC）缺乏146/182（27），蛋白S（PS）缺乏62/84（16），肝素辅因子缺乏HC-Ⅱ 2/3（0），异常纤溶酶原血症65/65+α（7），异常纤维蛋白原血症47/57（13），其他16/20（4），共475/601（82）例。第二次问卷调查82例中，有36例（43.9%）得到回答.其中有儿童血栓栓塞史者21例（AT 4、PC 10、PS 7），无儿童血栓栓塞史者15例（AT 3、PC 4、PS 8）。前一组的性别比为M11：F10。事件发生时的年龄范围为新生儿期至青春期。血栓栓塞的主要首发事件为下肢深静脉血栓形成（DVT）、肺血栓栓塞（PTE）、脑栓塞等。实验室检查多数病例AT、PC、PS活性和抗原均为中低水平（Ⅰ型，杂合子），仅3例PC、PS活性和抗原均为极低水平，8例进行了基因分析。在这些病例中，在最初发生血栓栓塞事件时使用多种抗血栓药物，在每次诊断确定后，大多数情况下使用华法林进行预防性治疗。采用凝血酶原时间-INR和/或Thrombotest作为监测指标，评价止血控制良好。提示对儿童血栓形成倾向的治疗应注意观察。还对儿童血栓形成倾向进行了其他临床和生物分子研究。

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.