Gebauer E, Baklaja R, Gebauer K, Stevanović S
Institut za zdravstvenu zastitu dece i omladine, Medicinski fakultet, Novi Sad.
Med Pregl. 1996;49(11-12):479-82.
Von Willebrand's disease seems to be the most common hereditary bleeding disorder in children. Every form of this disease is based on quantitative or qualitative disorder of von Willebrand's factor influencing adhesion of thrombocytes (primary hemostasis) and stabilization FVIII:C in circulation (secondary hemostasis). We present contemporary knowledge on epidemiologic investigations, molecular biology, classification and rational diagnostic approach to von Willebrand's disease in children. We also report on evaluating laboratory tests' reliability in 51 examined children with von Willebrand's disease. It can be concluded that most laboratory tests are highly specific and significant for diagnosis. Determination of vWF activity has optimal value for establishing laboratory diagnosis of von Willebrand's disease; RIPA and multimer analysis are valuable for subtype classification.
血管性血友病似乎是儿童中最常见的遗传性出血性疾病。这种疾病的每种类型都是基于血管性血友病因子的数量或质量紊乱，影响血小板的黏附（初级止血）以及循环中FVIII:C的稳定（次级止血）。我们介绍了关于儿童血管性血友病的流行病学调查、分子生物学、分类及合理诊断方法的当代知识。我们还报告了对51例接受检查的血管性血友病患儿实验室检查可靠性的评估。可以得出结论，大多数实验室检查对诊断具有高度特异性和重要意义。测定vWF活性对确立血管性血友病的实验室诊断具有最佳价值；瑞斯托霉素诱导的血小板聚集试验（RIPA）和多聚体分析对亚型分类有价值。
