遗传性血管性水肿伴C1Inh缺乏
Hereditary angioedema with C1Inh deficiency
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, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle, or joint swelling may occur in some cases.
别名
遗传性血管神经性水肿伴C1抑制剂缺乏
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 成年期、老年期
- 患病率
- <1 / 1 000 000
相关基因 1来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| SERPING1 | serpin family G member 1 | ORPHA:100050 |
临床表型 24
常见 79–30%17
- 腹痛 HP:0002027
- 血管性水肿 HP:0100665
- 循环C1-酯酶抑制因子水平降低 HP:0034204
- 循环补体C4浓度降低 HP:0045042
- 腹泻 HP:0002014
- 边缘性红斑 HP:6001012
- 面部水肿 HP:0000282
- 生殖器水肿 HP:0031188
- 关节肿胀 HP:0001386
- 喉头水肿 HP:0012027
- 肌肉水肿 HP:0100748
- 恶心和呕吐 HP:0002017
- 非凹陷性水肿 HP:6000507
- 疼痛 HP:0012531
- 咽部水肿 HP:0011855
- 匐行性皮肤病变 HP:0025527
- 皮疹 HP:0000988
偶见 29–5%4
- 虚弱 HP:0025406
- 疲乏 HP:0012378
- 头痛 HP:0002315
- 感觉异常 HP:0003401
罕见 <4–1%1
- 阵发性上气道阻塞 HP:0012271
排除 0%2
- 瘙痒 HP:0000989
- 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）