C1 抑制剂在遗传性血管性水肿患者中的正常化。
Normalization of C1 Inhibitor in a Patient with Hereditary Angioedema.
机构信息
From the Departments of Clinical Immunology (N.E.P., D.J.M.L., F.D., R.J., S.Y.P.) and Pediatric Gastroenterology (L.H.), Oxford University Hospitals NHS Foundation Trust, and the Institute of Developmental and Regenerative Medicine (F.D.) and the Department of Paediatrics (F.D., D.K.), University of Oxford, Oxford, and the Clinical Immunology Service, Institute of Immunology and Immunotherapy, College of Medical and Dental Sciences, University of Birmingham (N.E.P.), and the Liver Unit, Birmingham Women's and Children's Hospital (G.L.G., K.S.), Birmingham - all in the United Kingdom.
出版信息
N Engl J Med. 2024 Jul 4;391(1):56-59. doi: 10.1056/NEJMoa2400403.
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, . 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.
遗传性血管性水肿是一种潜在危及生命的常染色体显性疾病，由于调节缓激肽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 抑制剂的基因突变引起的，。C1 抑制剂是一种在肝脏中产生的多功能蛋白，可在多个点调节激肽释放酶-激肽系统。一名经基因确认患有遗传性血管性水肿且 C1 抑制剂水平较低（但无先前血管性水肿发作）的婴儿因胆道闭锁接受了肝移植，这是一种无关的疾病。肝移植导致 C1 抑制剂水平和功能正常化。据我们所知，这代表了第一个可能治愈遗传性血管性水肿的患者。
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