...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Journal, Indian Academy of Clinical Medicine >Hereditary angioedema
【24h】

Hereditary angioedema

机译：遗传性血管性水肿

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Hereditary angioedema (HAE) is a rare disease characterised by recurrent, self-limiting episodes of swelling. It is an autosomal dominant disease caused by low levels of the plasma protein C1 inhibitor (C1-INH) resulting in reduced plasmatic levels (HAE type I) or a dysfunctional protein (HAE type II), affecting equally men & women of all ethnic backgrounds. Patients can present with any combination of painless, nonpruritic, nonpitting swelling of the skin (cutaneous angioedema), severe abdominal pain, or acute airway obstruction. Attacks of hereditary angioedema (HAE) are unpredictable and, if affecting the upper airways, can be lethal. The attacks may be frequent or rare and they may vary substantially in severity, causing stomach discomfort or periorbital swelling in mild cases and hypovolaemic shock due to abdominal fluid shift or asphyxiation in the most severe cases. Since the symptoms of hereditary angioedema may be caused by other disorders (such as an allergic reaction), bloo d tests or genetic tests are needed to confirm the diagnosis. Two specific blood tests for hereditary angio edema check the level and proper functioning of C1-INH. Genetic testing could look for one of the known gene defects of chromosome 11 associated with hereditary angioedema. The most reliable and cost-effective screening test for HAE is a serum C4 level. Prior to the development of effective therapy, the mortality rate from HAE was 20 - 30%. In HAE types I and II, the treatment of choice in acute attacks consists of replacement with commercially available C1 inhibitor (C1-INH) concentrates or kallikrein inhibitor or, if those are unavailable, recommended fresh-frozen plasma. In HAE type III, infusion of C1-INH has proven to be ineffective.
机译：遗传性血管性水肿（HAE）是一种罕见的疾病，其特征是反复发作，自限性肿胀。这是一种常染色体显性疾病，由血浆蛋白C1抑制剂（C1-INH）含量低引起，导致血浆水平降低（I型HAE）或功能失调的蛋白（HAE II型），对所有种族背景的男性和女性均产生同样的影响。患者可表现出无痛，无瘙痒，无斑点的皮肤肿胀（皮肤血管性水肿），严重的腹痛或急性气道阻塞的任何组合。遗传性血管性水肿（HAE）的发作是无法预测的，如果影响上呼吸道，则可能是致命的。发作可能是频繁的或罕见的，严重程度可能有很大差异，在轻度病例中会引起胃部不适或眶周肿胀，在最严重的病例中会因腹水移位或窒息而引起血容量不足。由于遗传性血管性水肿的症状可能是由其他疾病（例如过敏反应）引起的，因此需要进行血液检查或基因检查以确诊。两种针对遗传性血管性水肿的特定血液检查可检查C1-INH的水平和正常运作。基因测试可以寻找与遗传性血管性水肿有关的11号染色体的已知基因缺陷之一。 HAE的最可靠和最具成本效益的筛查测试是血清C4水平。在开发有效疗法之前，HAE的死亡率为20-30％。在I型和II型HAE中，急性发作时的治疗选择包括用市售的C1抑制剂（C1-INH）浓缩物或激肽释放酶抑制剂替代;如果无法获得，推荐使用新鲜的冷冻血浆。在III型HAE中，已证明C1-INH输注无效。

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