C1Inh正常的遗传性血管性水肿
Hereditary angioedema with normal C1Inh
定义 英文原文（暂无中文）
A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria and with normal levels and function of C1 esterase inhibitor. Patients present with prolonged attacks which last for approximately two to five days and may include nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Affected locations and frequency of attacks differ slightly between subtypes. Estrogen-containing oral contraceptives and pregnancy are precipitating factors, especially in patients with a factor XII mutation.
别名
C1抑制剂正常的遗传性血管性水肿
基本事实
- 遗传方式
- 不适用
临床表型 13
极常见 99–80%1
- 血管性水肿 HP:0100665
常见 79–30%4
- 上肢水肿 HP:0010742
- 面部水肿 HP:0000282
- 肠道水肿 HP:0005225
- 喉头水肿 HP:0012027
偶见 29–5%5
- 腹痛 HP:0002027
- 异常出血 HP:0001892
- 哮喘 HP:0002099
- 生殖器水肿 HP:0031188
- 舌头水肿 HP:0040315
罕见 <4–1%1
- 疲乏 HP:0012378
排除 0%2
- 循环补体C4浓度降低 HP:0045042
- 荨麻疹 HP:0001025
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）