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作者信息

Bouillet Laurence, Defendi Frederica, Hardy Gaelle, Cesbron Jean Yves, Boccon-Gibod Isabelle, Deroux Alban, Mansard Catherine, Launay David, Gompel Anne, Floccard Bernard, Jaussaud Roland, Beaudouin Etienne, Armengol Guillaume, Olliver Yann, Gayet Stephane, Du Than Aureli, Sailler Laurent, Guez Stephane, Sarrat Anne, Sorin Lucile, de Moreuil Claire, Pelletier Fabien, Javaud Nicolas, Marmion Nicolas, Fain Olivier, Fauré Julien, Dumestre-Pérard Chantal

机构信息

Université Grenoble Alpes (UGA), service de médecine interne, CHUGA, unité Inserm 1036, Grenoble, France; Centre de référence national des angioedèmes (CREAK), 38043 Grenoble, France.

Centre de référence national des angioedèmes (CREAK), 38043 Grenoble, France; Service d'immunologie, CHUGA, 38043 Grenoble, France.

出版信息

Presse Med. 2019 Jan;48(1 Pt 1):55-62. doi: 10.1016/j.lpm.2018.06.015. Epub 2018 Nov 8.

Abstract

Bradykinin mediated angioedema (BK-AE) can be associated either with C1Inhibitor deficiency (hereditary and acquired forms), either with normal C1Inh (hereditary form and drug induced AE as angiotensin converting enzyme inhibitors…). In case of high clinical suspicion of BK-AE, C1Inh exploration must be done at first: C1Inh function and antigenemy as well as C4 concentration. C1Inh deficiency is significant if the tests are below 50 % of the normal values and controlled a second time. In case of C1Inh deficiency, you have to identify hereditary from acquired forms. C1q and anti-C1Inh antibody tests are useful for acquired BK-AE. SERPING1 gene screening must be done if a hereditary angioedema is suspected, even if there is no family context (de novo mutation 15 %). If a hereditary BK-AE with normal C1Inh is suspected, F12 and PLG gene screening is suitable.

摘要

缓激肽介导的血管性水肿(BK-AE)可能与C1抑制剂缺乏(遗传性和获得性形式)有关,也可能与正常C1Inh(遗传性形式和药物诱导的AE,如血管紧张素转换酶抑制剂……)有关。如果临床高度怀疑BK-AE,首先必须进行C1Inh检测:C1Inh功能、抗原性以及C4浓度。如果检测结果低于正常值的50%,且再次检测得到确认,则C1Inh缺乏具有显著意义。如果存在C1Inh缺乏,必须区分遗传性和获得性形式。C1q和抗C1Inh抗体检测对获得性BK-AE有用。如果怀疑是遗传性血管性水肿,即使没有家族背景(新发突变15%),也必须进行SERPING1基因筛查。如果怀疑是C1Inh正常的遗传性BK-AE,则适合进行F12和PLG基因筛查。

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