Nowak-Göttl U, Vielhaber H
Department of Paediatrics, University Hospital, Münster, Germany.
Eur J Haematol. 1997 Jan;58(1):51-5. doi: 10.1111/j.1600-0609.1997.tb01410.x.
To find out to what extent the Arg506 to Gln mutation in the factor V gene affects the defence system against thromboembolism we investigated soluble thrombomodulin, protein C, protein S along with thrombin generation and D-dimer formation in 188 children. Children with the Arg506 to Gln mutation in the factor V gene (n = 48) showed significantly elevated thrombomodulin concentrations compared to nonaffected brothers and sisters (n = 50; p = 0.001) and age-matched healthy controls (n = 90; p < 0.0001). In addition, thrombin generation and D-dimer formation were significantly elevated in children with the mutation. In contrast, protein C and total protein S antigen levels were no different in the populations tested. Thus, with respect to thrombomodulin being a potent inhibitor of coagulation activation, the present data might be interpreted as a counterregulatory mechanism in infants and children with the Arg506 to Gln mutation in the factor V gene, maintaining the coagulation balance. The role of TM and other proteins involved in the coagulation balance in children and adults homozygous for the Arg506 to Gln mutation in the factor V gene remains to be clarified.
为了探究凝血因子V基因中第506位精氨酸突变为谷氨酰胺对血栓栓塞防御系统的影响程度，我们对188名儿童的可溶性血栓调节蛋白、蛋白C、蛋白S以及凝血酶生成和D - 二聚体形成进行了研究。凝血因子V基因发生第506位精氨酸突变为谷氨酰胺的儿童（n = 48）与未受影响的兄弟姐妹（n = 50；p = 0.001）以及年龄匹配的健康对照儿童（n = 90；p < 0.0001）相比，血栓调节蛋白浓度显著升高。此外，发生突变的儿童凝血酶生成和D - 二聚体形成也显著升高。相比之下，受试人群中蛋白C和总蛋白S抗原水平并无差异。因此，鉴于血栓调节蛋白是凝血激活的强效抑制剂，目前的数据可能被解释为凝血因子V基因发生第506位精氨酸突变为谷氨酰胺的婴幼儿和儿童中的一种反调节机制，以维持凝血平衡。血栓调节蛋白及其他参与凝血平衡的蛋白质在凝血因子V基因发生第506位精氨酸突变为谷氨酰胺的儿童和成人纯合子中的作用仍有待阐明。
