Hereditary angioedema is a potentially life-threatening autosomal dominant condition, causing attacks of angioedema due to failure to regulate bradykinin. Nearly all cases of hereditary angioedema are caused by mutations in the gene encoding C1 inhibitor, SERPING1. C1 inhibitor is a multifunctional protein produced in the liver that regulates the kallikrein-kinin system at multiple points. An infant with genetically confirmed hereditary angioedema and low C1 inhibitor levels (but without previous episodes of angioedema) underwent liver transplantation for biliary atresia, an unrelated condition. Liver transplantation led to normalization of the C1 inhibitor level and function. To our knowledge, this represents the first patient to be potentially cured of hereditary angioedema.

中文翻译：

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遗传性血管性水肿患者 C1 抑制剂的正常化。


遗传性血管性水肿是一种可能危及生命的常染色体显性遗传病，由于缓激肽调节失败而导致血管性水肿发作。几乎所有遗传性血管性水肿病例都是由编码 C1 抑制剂 SERPING1 的基因突变引起的。 C1 抑制剂是肝脏中产生的一种多功能蛋白质，可在多个点调节激肽释放酶-激肽系统。一名患有遗传性血管性水肿且 C1 抑制剂水平较低（但之前没有血管性水肿发作）的婴儿因胆道闭锁（一种不相关的疾病）接受了肝移植。肝移植导致 C1 抑制剂水平和功能正常化。据我们所知，这是第一位可能治愈遗传性血管水肿的患者。