Pediatric venous thromboembolic disease in one single center: congenital prothrombotic disorders and the clinical outcome
Pediatric venous thromboembolic disease in one single center: congenital prothrombotic disorders and the clinical outcome
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DOI：
10.1046/j.1538-7836.2003.00465.x
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发表时间：
2003-12-01
影响因子：
10.4
通讯作者：
Peters, M
中科院分区：
文献类型：
--
作者：
Van Ommen, CH;Heijboer, H;Peters, M
为了了解更多关于先天性血栓前障碍在小儿静脉血栓栓塞（VTE）中的发生率和这种疾病的结局，我们在一个三级中心评估了12年内客观诊断为VTE的0至18岁的连续患者。我们纳入了100例患者，诊断时的中位年龄为1.0岁（范围为2天至17岁）。96%的患者至少存在一种基础临床疾病。13%的受试者存在因子（F）V G169 1A突变，3%存在FII G20210 A突变，1%存在抗凝血酶缺陷，1%存在蛋白C缺陷，1%存在蛋白S缺陷。在77例接受完整检查的患者中，2.6%的患者存在合并缺陷。阳性家族史似乎是先天性疾病阳性检测的唯一预测因素（OR 14.9，95%CI 1.9-113）。总死亡率为20%。随访1年后累积无复发生存率为92%，7年后为82%。分析了33例下肢静脉血栓栓塞患者的血栓后综合征的发生率和严重程度。23例（70%）患者发生PTS：3例中度，20例轻度。总之，先天性血栓前障碍似乎在儿童VTF的发展中发挥作用，并且这种疾病的并发症的风险很高。
To learn more about the frequencies of congenital prothrombotic disorders in pediatric venous thromboembolism (VTE) and the outcome of this disease, we evaluated consecutive patients from 0 to 18 years with objectively diagnosed VTE at a single tertiary center over a 12-year period. We included 100 patients, with a median age at diagnosis of 1.0 year (range 2 days to 17 years). At least one underlying clinical condition was present in 96% of the patients. Factor (F)V G 169 1 A mutation was present in 13%, FII G20210A mutation in 3%, antithrombin deficiency in 1%, protein C deficiency in 1% and protein S deficiency in 1% of the tested patients. Combined defects were present in 2.6% of the 77 patients with a complete work-up. Positive family history appeared to be the only predictor for positive testing for congenital disorders (OR 14.9,95% CI 1.9-113). The overall mortality rate was 20%. The cumulative recurrence-free survival was 92% after 1 year of follow-up, and 82% after 7 years. The incidence and severity of the post-thrombotic syndrome was analyzed in a subgroup of 33 patients with VTE of the lower extremities. Twenty-three (70%) patients developed PTS: moderate in three and mild in 20 patients. In conclusion, congenital prothrombotic disorders seem to play a role in the development of pediatric VTF, and the risk of complications of this disease is high.