摘要
目的:测定患有门静脉血栓形成(PVT)的儿童和青少年中遗传性凝血障碍的发生率,并评价这一疾病的遗传特征。方法:在儿科的PVT患者(n=14)、他们的父母(n=25)及年龄匹配的未患肝病的对照组(n=28)中实施一项为期2年的前瞻性研究。
Purpose The aim of this study was to determine the frequency of thrombophilic disorders in children and adolescents with portal vein thrombosis (PVT) as well as assessing the hereditary character of this disorder. Methods A 2 - year prospective study was carried out in pediatric PVT patients (n = 14), their parents (n = 25), and an age-matched control group free of liver disease (n = 28). The presence of PVT was assessed by means of Doppler ultrasound scan or angiography. None of the PVT patients presented biochemical or histologic signs of liver disease. Results The frequency in PVT patients of protein C (PC), protein S (PS) and antithrombin (AT) deficiency was 42. 9% (P<. 05 v controls), 21. 4% (P>. 05) and 7. 1% (P>. 05), respectively. None of the controls or parents of PVT patients presented hereditary PC, PS, or AT deficiency. One PVT patient and one control (P = . 999) presented prothrombin G20210A mutation. Homozygous methylenete-trahydrofolate reductase C677T genotype was observed in 3 of 14 (21. 4% ) PVT patients and in 5 of 28 (17. 9% ; P = . 356) controls. None of these patients presented factor V G1691A mutation. Conclusions PC deficiency was frequent in pediatric PVT patients and does not seem to be an inherited condition. The hereditary prothrombotic disorders do not seem to play a vital role in thrombosis in children and adolescents with PVT.
