先天性VII因子缺乏症
Congenital factor VII deficiency
定义 英文原文（暂无中文）
A rare, genetic, congenital vitamin K-dependant coagulation factor deficiency disorder characterized by decreased levels or absence of coagulation factor VII (FVII), resulting in bleeding diathesis of variable severity.
别名
先天性转变加速因子缺乏症
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 1 000 000（Europe）
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| F7 | coagulation factor VII | Disease-causing germline mutation(s) in |
临床表型 12
极常见 99–80%2
- 胃肠道出血 HP:0002239
- 颅内出血 HP:0002170
常见 79–30%7
- 瘀斑易感性 HP:0000978
- 鼻衄 HP:0000421
- 牙龈出血 HP:0000225
- 关节出血 HP:0005261
- 月经过多症 HP:0000132
- 手术后出血时间延长 HP:0004846
- 凝血酶原时间延长 HP:0008151
偶见 29–5%3
- 脐带异常 HP:0010881
- 卵巢囊肿 HP:0000138
- 产后出血 HP:0011891
近两年的全球研究 30L2
2024/10 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。
- 2026-09开放获取Reply: factor II/X-guided warfarin monitoring for congenital factor VII deficiency after mechanical valve replacement
- 2026-09开放获取FIIX-based vitamin K antagonist monitoring: the promise of improved anticoagulation stability and clinical outcomes in mechanical heart valve patients
- 2026-09Treatment of Deep Vein Thrombosis in Congenital Factor VII Deficiency: A Case Report and Literature Review
- 2026-09开放获取Treatment of Deep Vein Thrombosis in Congenital Factor VII Deficiency: A Case Report and Literature Review
- 2026-09Portal cavernoma in a child with congenital factor VII deficiency: A paradoxical thrombotic presentation
- 2026-08病例报告开放获取Intracranial Hemorrhage as a Life-Threatening Complication of Congenital Factor VII Deficiency Associated With Inhibitor Development: A Case Report
- 2026-08Perioperative Management of Mild Congenital Factor VII Deficiency in a Toddler Undergoing Tetralogy of Fallot Repair: Complementary Roles of Conventional Coagulation Testing, Factor Assays, and Viscoelastic Testing
- 2026-06病例报告开放获取Late Thrombosis With Ischemia After Left Main Coronary Artery Fistula Closure: When Simplified Repair Is Not Enough
- 2026-06开放获取Perioperative management in a patient with congenital factor VII deficiency following mechanical valve replacement: a case report
- 2026-05开放获取Clinical evaluation of children referred to paediatric haematology clinics for elevated serum vitamin B<sub>12</sub> levels
- 2026-05开放获取ABSTRACT NUMBER: ESOC2026A1355 SEVERE POST-THROMBOLYSIS HYPOFIBRINOGENEMIA REVEALING CONGENITAL FACTOR VII DEFICIENCY: A CASE REPORT
- 2026-04病例报告开放获取A Phenotype-driven strategy for bilateral VATS in severe factor VII deficiency: securing hemostasis without complete parameter correction
- 2026-03病例报告开放获取Spontaneous Splenic Rupture in a Patient With Combined Congenital Factor XIII and Factor VII Deficiencies: A Case Report
- 2026-02开放获取Botulinum Toxin A in Poststroke Oromandibular Dystonia: Case Reports
- 2026-02综述开放获取Rare inherited autosomal bleeding disorders in women: sex-related bleeding, pregnancy and delivery. A narrative review
- 2026-01病例报告开放获取Congenital factor VII deficiency as a cause of postpartum hemorrhage: A case report
- 2025-11综述开放获取Transformative approaches in hemophilia management: from traditional therapies to prenatal stem cell treatment
- 2025-11病例报告开放获取Perioperative Challenges in a Patient With Moderate Congenital Factor VII Deficiency: A Case Report
- 2025-10开放获取A 5-year-old Chinese boy with mild symptoms despite severe congenital factor VII deficiency: A case report
- 2025-08开放获取Reforming China's Rare Disease Security System: Risk Management Perspectives and a Dedicated Insurance Innovation
境外已获批用于本病的药物 1L2
欧盟 0 项、美国 1 项。同一药物在两地各批一次的，会分别列出。
「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。
药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。
- NovoSeven美国2005-07-11Coagulation factor VIIa (recombinant)官方记录
尚未获批的在研药物（4 项）
这些药已被欧盟或美国的监管机构认定为罕见病用药（英文 orphan drug designation，中文行业里通称「孤儿药资格」——「孤儿」说的是这类药市场太小、没有厂商愿意认领，不是在说病人）。但这只是一种监管身份：意味着监管机构给予研发上的激励，不代表这个药已被证明有效，也不代表将来一定能上市，绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。
- recombinant fusion protein linking coagulation factor VIIa with albumi欧盟2013-10-07Treatment of congenital factor VII deficiency官方记录
- recombinant factor VIIa modified with three terminal repeats derived f欧盟2014-08-22Treatment of congenital factor VII deficiency官方记录
- adeno-associated viral vector serotype 8 containing the human factor-V欧盟2015-01-15Treatment of congenital factor VII deficiency官方记录
- recombinant fusion protein linking coagulation factor VIIa with albumi美国2013-05-06Treatment of congenital factor VII deficiency which includes treatment and prophylaxis of bleeding episodes in patients with congenital factor VII deficiency官方记录
数据来自欧洲药品管理局（EMA）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。
在中国开展的临床试验 3L2
按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。
登记为可入组 2
- 招募中NCT07644832An Open-label, Multicenter Phase I/II Clinical Trial to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetic/Pharmacodynamic (PK/PD) Characteristics of SR604 Injection in Patients With Hemophilia A/B and Congenital Factor VII Deficiency中国研究中心 9 个：Changsha、Hefei、Jinan、Lanzhou、Shanghai、Taiyuan 等 9 地
- 尚未开始招募NCT07711158A Phase II Exploratory Study of SR604 Injection Evaluating the Safety and Efficacy in the Treatment of Congenital Coagulation Factor VII Deficiency中国研究中心 1 个：Tianjin
其他状态的试验（1 项）
- 已完成NCT05651061A Phase I of SS109 in Hemophilia A or and B With Inhibitors中国研究中心 10 个：Changsha、Hefei、Jinan、Kunming、Nanchang、Taiyuan 等 10 地
中国境外的在招试验 4L2
这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。
CT.gov 报告命中 4 项，此处取回并展示最近的 2 项。
- 招募中NCT07347249A Clinical Study to Assess Sutacimig in Participants With Congenital Factor VII Deficiency英国
- 招募中NCT06349473A Study of Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of SR604 in Two Participants Groups (Part A: Healthy Participants, and Part B: Participants With Hemophilia A or Hemophilia B or Factor VII Deficiency)加拿大、美国
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）