• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Thrombosis and Haemostasis: Journal of the International Society on Thrombosis and Haemostasis >Factor VIII inhibitors in mild and moderate-severity haemophilia A. UK Haemophilia Centre Directors Organisation (see comments)
【24h】

Factor VIII inhibitors in mild and moderate-severity haemophilia A. UK Haemophilia Centre Directors Organisation (see comments)

机译：轻度和中度重度血友病中的VIII因子抑制剂A.英国血友病中心主任组织（请参阅评论）

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Twenty six patients with mild or moderate haemophilia A and inhibitors are described. The inhibitor was detected at a median age of 33 years, after a median of 5.5 bleeding episodes. This usually following intensive replacement therapy. The median presenting inhibitor titre was antihuman 11.6 BU/ml, antiporcine 1.45 BU/ml. Plasma basal factor VIII level declined from a median of 0.08 IU/ml to 0.01 IU/ml following the inhibitor development. This caused spontaneous bleeding in 22 and a bleeding pattern similar to acquired haemophilia in 17. Bleeding was often severe and caused two deaths. The inhibitor disappeared spontaneously, or following immune tolerance induction, in 16 cases after a median of 9 months (range 0.5-46), with a return to the original baseline VIIIC level and bleeding pattern accompanied inhibitor loss. The inhibitor persisted in the remainder of the cases over a median period of 99 months (range 17-433 months) of follow-up. Inhibitors are an uncommon complication of mild haemophilia which frequently persist and may be associated with severe, life-threatening, haemorrhage. Forty-one percent of treated haemophilic family members had a history of factor VIII inhibitors, suggesting a familial predisposition to develop inhibitors in these kindreds. Sixteen patients from 11 families were genotyped. Seven different missense mutations affecting the light chain were detected and two in the A2 domain. Five patients from three families had a mutation causing a substitution of Trp2229 by Cys in the C2 domain which appears to predispose to inhibitor formation since 7 of the 18 affected individuals have a history of inhibitor development.
机译：描述了26名轻度或中度A型血友病患者及其抑制剂。在中位发生5.5次出血事件后，发现该抑制剂的中位年龄为33岁。这通常在强化替代疗法之后。中值呈递抑制剂滴度为抗人11.6 BU / ml，抗猪1.45 BU / ml。抑制剂发展后，血浆基础因子VIII水平从中位数0.08 IU / ml下降至0.01 IU / ml。这导致22的自发性出血和类似于17的获得性血友病的出血方式。出血通常很严重，并导致两人死亡。在中位9个月（范围0.5-46）后的16例中，该抑制剂自发消失或在免疫耐受诱导后消失，恢复到原始的VIIIC基线水平，并伴随着抑制剂的流失而出血。在其余的病例中，抑制剂持续了99个月（17-433个月）的中位随访期。抑制剂是轻度血友病的罕见并发症，其经常持续存在，并可能与严重的危及生命的出血有关。接受治疗的血友病家庭成员中有41％曾有VIII因子抑制剂的病史，这表明这些家族中有家族倾向发展抑制剂。对来自11个家庭的16位患者进行了基因分型。检测到七个影响轻链的不同错义突变，其中两个在A2结构域中。来自三个家庭的五位患者发生突变，导致C2域中的Cys取代了Trp2229，这似乎是抑制剂形成的诱因，因为18位受影响的个体中有7位具有抑制剂发展史。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号