Hara T, Kitano A, Kajiwara T, Kondo T, Sakai K, Hamasaki Y
Am J Pediatr Hematol Oncol. 1986 Winter;8(4):324-8. doi: 10.1097/00043426-198624000-00010.
A 4-year-old Japanese girl had a congenital disorder that was characterized by recurrent thrombocytopenia, hemolytic anemia, hematuria, and proteinuria, which were repeatedly improved by the infusion of factor VIII concentrate. She developed the similar symptoms within 1 h after 1-desamino-8-D-arginine vasopressin (DDAVP) administration. Coagulation studies 30 and 60 min after DDAVP infusion showed a disappearance of large factor VIII:von Willebrand factor (VIII:vWF) multimers, which was the same abnormality that was observed at acute episodes. There were no significant changes in the plasma levels of 6-keto-prostaglandin F1 alpha and thromboxane B2 before and after DDAVP infusion. These results provide further support that VIII:vWF is directly involved in the pathogenesis of this congenital disorder.
一名4岁日本女孩患有一种先天性疾病，其特征为反复出现血小板减少、溶血性贫血、血尿和蛋白尿，输注凝血因子VIII浓缩物后这些症状反复得到改善。她在使用去氨基-8-D-精氨酸加压素（DDAVP）后1小时内出现了类似症状。DDAVP输注后30分钟和60分钟的凝血研究显示，大分子量凝血因子VIII：血管性血友病因子（VIII：vWF）多聚体消失，这与急性发作时观察到的异常情况相同。DDAVP输注前后血浆中6-酮-前列腺素F1α和血栓素B2的水平没有显著变化。这些结果进一步支持了VIII：vWF直接参与这种先天性疾病的发病机制。
