A Case of Hereditary Angioedema Involving Recurrent Abdominal Attacks

被引:7
|
作者
Kasamatsu, Yoshihiro [1 ]
Yoshinoya, Kiyokazu [1 ]
Kasamatsu, Yu [1 ]
Yamamoto, Tetsuro
Horiuchi, Takahiko [2 ]
Kadoya, Masatoshi [1 ]
机构
[1] Matsushita Mem Hosp, Dept Resp Med, Moriguchi, Osaka, Japan
[2] Kyushu Univ, Grad Sch Med Sci, Dept Med & Biosyst Sci, Fukuoka 812, Japan
关键词
hereditary angioedema; C1-inhibitor concentrate; C1 inhibitor gene; C1 INHIBITOR CONCENTRATE; INACTIVATION; PROTEINASE; MANAGEMENT; CLEAVAGE; ELASTASE;
D O I
10.2169/internalmedicine.50.6224
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
A 44-year-old Japanese woman was diagnosed with type 1 hereditary angioedema (HAE) at the age of 30. In March 2007, she began suffering from severe abdominal pain due to intestinal edema. After treatment with C1-INH concentrate, her symptoms disappeared. However, during the subsequent three years, the frequency of the attacks increased continuously, and C1-INH concentrate was necessary for treatment of every attack. The increase in the number of attacks might have been due to the frequent injection of C1-INH concentrate or the deterioration of her disease course. In a genetic investigation, the patient was found to have a novel mutation in the C1-INH gene.
引用
收藏
页码:2911 / 2914
页数:4
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