Nugent Diane J
Division of Hematology, Hemostasis/Thrombosis Research, Children's Hospital of Orange County, Orange, CA 92868, USA.
Thromb Res. 2006;118 Suppl 1:S23-8. doi: 10.1016/j.thromres.2006.02.009. Epub 2006 Apr 17.
Factor XIII (FXIII) deficiency is a very rare form of haemophilia resulting in different manifestations of bleeding disorders, but characterised by umbilical stump bleeding in up to 80% of patients. Although originally described as the final enzyme in the clotting cascade, FXIII is now recognised to play a role throughout the clotting process. Treatment with FXIII concentrate (Fibrogammin P, ZLB Behring) results in the re-establishment of a normal clotting pattern. Prophylaxis studies in France and the USA have demonstrated an excellent response following monthly prophylaxis with this plasma-derived, pasteurised concentrate. Patients with FXIII deficiency have good control of bleeding, with no development of inhibitors, or viral seroconversion. The development of registries such as that in the USA will enable the different manifestations of the disease to be explored.
因子 XIII（FXIII）缺乏症是一种非常罕见的血友病形式，会导致出血性疾病的不同表现，但高达 80% 的患者以脐带残端出血为特征。尽管 FXIII 最初被描述为凝血级联反应中的最终酶，但现在人们认识到它在整个凝血过程中都发挥作用。使用 FXIII 浓缩物（Fibrogammin P，ZLB 拜耳）进行治疗可重新建立正常的凝血模式。法国和美国的预防性研究表明，每月使用这种血浆来源的巴氏消毒浓缩物进行预防后，反应良好。FXIII 缺乏症患者的出血得到了很好的控制，没有出现抑制剂或病毒血清转化。美国等登记处的建立将有助于探索该疾病的不同表现。
