Clinical and Biomolecular Studies on Thrombophilia in Children.

儿童血栓形成倾向的临床和生物分子研究。

基本信息

批准号：
10470212
负责人：
YOSHIOKA Akira
金额：
$ 6.85万
依托单位：
Nara Medical University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (B)
财政年份：
1998
资助国家：
日本
起止时间：
1998 至 2000
项目状态：
已结题

项目摘要

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.

为了了解患者的数量和临床情况，我们对全国范围内的儿童血栓形成倾向进行了问卷调查，我们向1, 319名医生发出了第一份调查问卷，得到了806份答复（61.1%）。先天性抗凝血酶（AT）缺乏症137个家庭/190例（15名儿童），蛋白C（PC）缺乏症146/182（27），蛋白S（PS）缺乏症62/84(16)，肝素辅因子有效（HC-II2/3(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)，以及截至 2 日，我们从 82 个案例中得到了 36 个案例的答复（43.9%）。问卷分为2组，儿童期血栓栓塞事件阳性史21例（AT 4、PC10、PS7）和儿童期阴性史15例（AT3、PC4、PS8）。发病年龄为M11：F10，血栓栓塞的主要首发事件为下肢深静脉血栓（DVT）、肺部血栓。血栓栓塞（PTE）、脑栓塞等。实验室检查显示，大多数病例AT、PC和PS（I型，杂合子）活性和抗原呈中低水平，仅在少数病例中PC和PS极低水平。 3例，8例进行了基因分析，这些病例在血栓栓塞初期均使用了多种抗血栓药物，每次诊断后大多采用华法林进行预防治疗。凝血酶原时间-INR 和/或血栓测试被用作评估良好止血控制的监测器，建议对患有血栓形成倾向的儿童进行仔细和持续的观察是最重要的。