每日一题_2024.09.05

A previously healthy 53-year-old woman presented with a recurrent episode of severe, diffuse abdominal pain. During the previous month, she had been having sudden, self-limited bouts of abdominal pain twice per week. She had no history of swelling of the face or limbs and had not been taking an angiotensin-converting–enzyme inhibitor. There was no family history of angioedema. An abdominal examination was normal. CT of the abdomen revealed segmental thickening of the walls of the colon and rectum and mesenteric edema. A colonoscopy revealed edema of the entire colon. No abnormalities in the colonic mucosa were detected on biopsy. Laboratory testing showed low serum levels of C4, C1 inhibitor antigen, and C1q on repeated measurements, as well as decreased C1 esterase function. A diagnosis of angioedema of the intestines was made. Which of the following is the most likely cause?

一位之前健康的53岁女性出现了严重、弥漫性腹痛的复发性发作。在过去的一个月里，她每周会有两次突然发作的、自我限制的腹痛。她没有面部或四肢肿胀的病史，也没有服用过血管紧张素转换酶抑制剂。没有血管性水肿的家族史。腹部检查正常。腹部CT显示结肠和直肠壁的节段性增厚和肠系膜水肿。结肠镜检查显示整个结肠水肿。在活检中未检测到结肠粘膜的异常。实验室检测显示，C4、C1抑制剂抗原和C1q的血清水平在多次测量中均较低，以及C1酯酶功能降低。诊断为肠道血管性水肿。以下哪项最可能是原因？

A. Acquired C1 inhibitor deficiency获得性C1抑制剂缺乏

B. Drug-induced angioedema (ACE-I or NSAID)药物诱导的血管性水肿（ACE-I或NSAID）

C. Hereditary angioedema with low functional C1 inhibitor功能性C1抑制剂低下的遗传性血管性水肿

D. Hereditary angioedema with normal C1 inhibitorC1抑制剂正常的遗传性血管性水肿

E. Idiopathic nonhistaminergic angioedema特发性非组胺性血管性水肿

答案解析：

下一代基因测序没有在SERPING1中发现任何突变，该基因编码C1抑制剂。由于患者血管性水肿的发病年龄较大，没有血管性水肿的家族史，以及C1q水平低，因此诊断为可能由于获得性C1抑制剂缺乏导致的肠道血管性水肿。对可能作为获得性C1抑制剂缺乏触发因素的潜在淋巴增殖性疾病或自身免疫状况的评估结果为阴性。

正确答案：A