Kasamatsu Yoshihiro, Yoshinoya Kiyokazu, Kasamatsu Yu, Yamamoto Tetsuro, Horiuchi Takahiko, Kadoya Masatoshi
Department of Respiratory Medicine, Matsushita Memorial Hospital, Japan.
Intern Med. 2011;50(23):2911-4. doi: 10.2169/internalmedicine.50.6224. Epub 2011 Dec 1.
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.
一名44岁的日本女性在30岁时被诊断为1型遗传性血管性水肿（HAE）。2007年3月，她开始因肠道水肿而遭受严重腹痛。经C1-INH浓缩物治疗后，她的症状消失。然而，在随后的三年里，发作频率持续增加，每次发作都需要用C1-INH浓缩物治疗。发作次数的增加可能是由于频繁注射C1-INH浓缩物或疾病进程恶化所致。在基因检测中，发现该患者的C1-INH基因有一个新的突变。
