Hereditary Angioedema with Normal C1 Inhibitor Update on Evaluation and Treatment

被引：42

作者：

Magerl, Markus ^{[1
]}

Germenis, Anastasios E. ^{[2
]}

Maas, Coen ^{[3
]}

Maurer, Marcus ^{[1
]}

机构：

[1] Charite Univ Med Berlin, Dept Dermatol & Allergy, Allergie Centrum Charite ECARF, Charitepl 1, D-10117 Berlin, Germany

[2] Univ Thessaly, Sch Hlth Sci, Fac Med, Dept Immunol & Histocompatibil, Panepistimiou 3, GR-41500 Biopolis, Larissa, Greece

[3] Univ Med Ctr Utrecht, Dept Clin Chem & Haematol, Heidelberglaan 100, NL-3584 CX Utrecht, Netherlands

来源：

IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA | 2017年 / 37卷 / 03期

关键词：

Hereditary angioedema; Factor XII; Plasmin; Mutation; Bradykinin; C1-inhibitor; FACTOR-XII GENE; CONTACT SYSTEM ACTIVATION; ANGIONEUROTIC-EDEMA; PRODROMAL SYMPTOMS; HAGEMAN-FACTOR; F12; GENE; PLASMINOGEN-ACTIVATOR; IDIOPATHIC ANGIOEDEMA; PATHOGENIC MECHANISMS; MISSENSE MUTATIONS;

D O I：

10.1016/j.iac.2017.04.004

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

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 low levels of C1 inhibitor (C1-INH). In patients with this form of HAE, C1-INH plasma levels and function values are normal, so it is termed HAE with normal C1-INH (HAE-nC1). HAE-nC17 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.

引用

页码：571 / +

页数：15

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