C1抑制剂正常的遗传性血管性水肿：评估与治疗的最新进展
Hereditary Angioedema with Normal C1 Inhibitor: Update on Evaluation and Treatment.
作者信息
Magerl Markus, Germenis Anastasios E, Maas Coen, Maurer Marcus
机构信息
Department of Dermatology and Allergy, Allergie-Centrum-Charité/ECARF, Charité - Universitätsmedizin Berlin, Charitéplatz 1, Berlin 10117, Germany.
Department of Immunology and Histocompatibility, Faculty of Medicine, School of Health Sciences, University of Thessaly, Panepistimiou 3, GR-41500 Biopolis, Larissa, Greece.
出版信息
Immunol Allergy Clin North Am. 2017 Aug;37(3):571-584. doi: 10.1016/j.iac.2017.04.004.
A new form of hereditary angioedema (HAE) was identified in the year 2000. Its clinical appearance resembles HAE types I and II, which are caused by mutations that result in a deficiency of C1 inhibitor (C1-INH). In patients with the new form of HAE, C1-INH plasma levels and function values are normal, so it's termed HAE with normal C1-INH (HAE-nC1). HAE-nC1, in a subgroup of patients, is thought to be caused by mutations that affect the F12 gene. The diagnosis of HAE-nC1 is based on history and clinical criteria. There are no licensed drugs with proven treatment effects for HAE-nC1.
2000年发现了一种新型遗传性血管性水肿（HAE）。其临床表现类似于I型和II型HAE，这两种类型是由导致C1抑制剂（C1-INH）缺乏的突变引起的。在新型HAE患者中，C1-INH血浆水平和功能值正常，因此被称为C1-INH正常的HAE（HAE-nC1）。在一部分患者中，HAE-nC1被认为是由影响F12基因的突变引起的。HAE-nC1的诊断基于病史和临床标准。目前尚无经证实对HAE-nC1有治疗效果的获批药物。
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