[1]张雪英,马春光,韩建德.遗传性血管性水肿1例及家系分析[J].中国皮肤性病学杂志,2014,(06):551-553.[doi:10.13735/j.cjdv.1001-7089.2014.0551]
　ZHANG Xue-ying,MA Chun-guang,HAN Jian-de.A Case of Hereditary Angioedema and Pedigree Analysis[J].The Chinese Journal of Dermatovenereology,2014,(06):551-553.[doi:10.13735/j.cjdv.1001-7089.2014.0551]
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遗传性血管性水肿1例及家系分析
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《中国皮肤性病学杂志》[ISSN:1001-7089/CN:61-1197/R]

卷:
期数:
2014年06期
页码:
551-553
栏目:
论著
出版日期:
2014-06-20

文章信息/Info

Title:
A Case of Hereditary Angioedema and Pedigree Analysis
作者:
张雪英1; 马春光2; 韩建德2
1.山东省单县中心医院皮肤科,山东 单县 274300; 2.中山大学附属第一医院皮肤科,广东 广州 510080
Author(s):
ZHANG Xue-ying1; MA Chun-guang2; HAN Jian-de2
(1.Department of Dermatology and Venerology,Central Hospital of Shan County of Shan Dong Province,Shanxian 274300,China; 2.Department of Dermatology and Venerology,the First Affiliated Hospital,of Sun Yat-sen University,Guangzhou 510080,China)
关键词:
血管性水肿; 遗传性;  家系分析;  临床表现
Keywords:
Hereditary angioedema;  Pedigree analysis;  Clinical manifestations
分类号:
R 596
DOI:
10.13735/j.cjdv.1001-7089.2014.0551
文献标志码:
A
摘要:
先证者男,58岁。面部肿胀并逐渐加重5d,伴呼吸困难1d。患者右侧面部及右眼睑和上下唇大面积肿胀,界不清。右手腕尺侧见约3.0cm×4.0cm大小肿块,非凹陷性,无压痛。诊断:遗传性血管性水肿(hereditary angioedema,HAE)。家系分析认为本病是一种少见的常染色体遗传病,由位于11号染色体上的C1酯酶抑制剂基因突变引起,其发病率低,以发作性、复发性皮下和黏膜下组织水肿为特征,常因临床表现复杂多样和缺乏特异性表现而难以明确诊断。
Abstract:
The proband was a 58-yesr-old male who presented with facial swelling for 5 days and dyspnea for 1 day. The patient had large, poorly defined swelling on his right face,right eyelid and lips. There was also a non-pitting bossing lump, sized about 3.0cm×4.0cm on his right ulnar wrist without tenderness. The diagnosis was hereditary angioedema(HAE). The pedigree analysis showed that HAE is an autosomal dominant inherited disease caused by deficiency of C1 esterase inhibitor(C1-INH)that results from mutations of the C1-INH gene on chromosome 11. It is a rare clinical disorder characterized by recurrent episodic subcutaneous and sub-mucosal edema. It is great difficult for clinical diagnosis because of low morbidity, non-specificity and diverse clinical manifestations.

参考文献/References:


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备注/Memo

备注/Memo:
[通讯作者]马春光,E-mail:machung@mail.sysu.edu.cn
更新日期/Last Update: 2014-06-20