Kotovshchikova E F, Buevich E I, Pen'kova E V, Kulikov V P, Chudimov V F, Siul'zhina E N, Bogdanova I V, Bochkarev A P
Klin Lab Diagn. 2012 Aug(8):33-6.
The examination was applied to sampling of 238 patients of younger age with neurologic symptomatology under connective tissue dysplasia and 46 healthy persons. The venous cerebral angiodystonia was diagnosed in 153 (64.3%) patients with connective tissue dysplasia. The results are confirmed by duplex analysis of cerebral and vertebral vessels. The mutations of genes of blood coagulation system (FV Leiden, FII, MTHFR, FVII and PAI-1) are established. They include combined (61.4%) and independent (23.5%) groups of mutation. Alongside with it, in 23 (19.6%) patients disorders of hemostasis are presented as von Willebrand factor deficiency and in 105 (89.7%) patients as decrease of aggregation function of thrombocytes and disorders of final coagulation stage of blood coagulation. The results of study indicate the equally frequent risk of thrombotic and hemorrhagic complications in patients with connective tissue dysplasia.
该检查应用于238例患有结缔组织发育异常且有神经症状的年轻患者以及46名健康人。在153例(64.3%)患有结缔组织发育异常的患者中诊断出静脉性脑血管张力障碍。脑和椎动脉的双功分析证实了这些结果。确定了凝血系统基因(FV莱顿、FII、MTHFR、FVII和PAI-1)的突变。它们包括组合突变组(61.4%)和独立突变组(23.5%)。与此同时,23例(19.6%)患者的止血障碍表现为血管性血友病因子缺乏,105例(89.7%)患者的止血障碍表现为血小板聚集功能下降和凝血终末阶段紊乱。研究结果表明,结缔组织发育异常患者发生血栓形成和出血并发症的风险同样常见。