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先天性VII因子缺乏症

Congenital factor VII deficiency

ORPHA:327疾病中国目录 第2批 · 17

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
F7coagulation factor VIIDisease-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 22L2

2024/08 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。

  • 2026-06
    Perioperative management in a patient with congenital factor VII deficiency following mechanical valve replacement: a case report
    Thrombosis journal · DOI · Europe PMC
  • 2026-05开放获取
    Clinical evaluation of children referred to paediatric haematology clinics for elevated serum vitamin B<sub>12</sub> levels
    BMJ paediatrics open · DOI · Europe PMC
  • 2026-05开放获取
    ABSTRACT NUMBER: ESOC2026A1355 SEVERE POST-THROMBOLYSIS HYPOFIBRINOGENEMIA REVEALING CONGENITAL FACTOR VII DEFICIENCY: A CASE REPORT
    European stroke journal
  • 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
    Journal of cardiothoracic surgery · DOI · Europe PMC
  • 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
    Cureus · DOI · Europe PMC
  • 2026-02开放获取
    Botulinum Toxin A in Poststroke Oromandibular Dystonia: Case Reports
    Case reports in neurological medicine · DOI · Europe PMC
  • 2026-02综述开放获取
    Rare inherited autosomal bleeding disorders in women: sex-related bleeding, pregnancy and delivery. A narrative review
    Blood transfusion = Trasfusione del sangue · DOI · Europe PMC
  • 2026-01病例报告开放获取
    Congenital factor VII deficiency as a cause of postpartum hemorrhage: A case report
    Case reports in women's health · DOI · Europe PMC
  • 2025-11综述开放获取
    Transformative approaches in hemophilia management: from traditional therapies to prenatal stem cell treatment
    Frontiers in bioengineering and biotechnology · 被引 1 · DOI · Europe PMC
  • 2025-11病例报告开放获取
    Perioperative Challenges in a Patient With Moderate Congenital Factor VII Deficiency: A Case Report
    Cureus · DOI · Europe PMC
  • 2025-10开放获取
    A 5-year-old Chinese boy with mild symptoms despite severe congenital factor VII deficiency: A case report
    The Journal of international medical research
  • 2025-08开放获取
    Reforming China's Rare Disease Security System: Risk Management Perspectives and a Dedicated Insurance Innovation
    Healthcare (Basel, Switzerland) · 被引 2 · DOI · Europe PMC
  • 2025-08病例报告开放获取
    Perinatal ischemic stroke in an infant with factor VII deficiency: A CARE-compliant case report
    Medicine · DOI · Europe PMC
  • 2025-07综述开放获取
    Advances in the comprehensive mechanisms, diagnosis, and treatment of heatstroke-induced coagulopathy
    Frontiers in cell and developmental biology · DOI · Europe PMC
  • 2025-05病例报告开放获取
    [Severe congenital Factor VII deficiency discovered incidentally in the peripartum period: a case report]
    The Pan African medical journal · DOI · Europe PMC
  • 2025-04综述病例报告开放获取
    A novel compound heterozygous mutation (c.64G > A and c.506-1G > A) associated with congenital coagulation factor VII deficiency: a case report and literature review
    Annals of hematology · 被引 1 · DOI · Europe PMC
  • 2025-01
    Abdominal Pain and Vomiting in a Boy with Factor VII Deficiency
    Oman medical journal · DOI · Europe PMC
  • 2025-01开放获取
    mBAT: a newly developed mobile application for self-screening of pediatric bleeding disorders - a multi-center study
    Annals of hematology · DOI · Europe PMC
  • 2025-01开放获取
    Real World Experience with use of Coagulation Factor VIIa at an Academic Medical Center
    Clinical and applied thrombosis/hemostasis : official journal of the I · DOI · Europe PMC
  • 2024-12病例报告开放获取
    Congenital Factor VII Deficiency: A Case Study of Four Family Members
    Cureus · 被引 1 · DOI · Europe PMC

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2005-07-11
    Coagulation factor VIIa (recombinant)
    官方记录
已获孤儿药资格、尚未获批的在研药物（4 项）

孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，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2013-10-07
    Treatment of congenital factor VII deficiency
    官方记录
  • recombinant factor VIIa modified with three terminal repeats derived f欧盟2014-08-22
    Treatment of congenital factor VII deficiency
    官方记录
  • adeno-associated viral vector serotype 8 containing the human factor-V欧盟2015-01-15
    Treatment of congenital factor VII deficiency
    官方记录
  • recombinant fusion protein linking coagulation factor VIIa with albumi美国2013-05-06
    Treatment 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）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。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NCT07644832
    An 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
    I 期、II 期 · 干预性 · 2024/05/31Shanghai RAAS Blood Products Co., Ltd.
    中国研究中心 9 个：Changsha、Hefei、Jinan、Lanzhou、Shanghai、Taiyuan 等 9 地
  • 尚未开始招募NCT07711158
    A Phase II Exploratory Study of SR604 Injection Evaluating the Safety and Efficacy in the Treatment of Congenital Coagulation Factor VII Deficiency
    II 期 · 干预性 · 2026/07Shanghai RAAS Blood Products Co., Ltd.
    中国研究中心 1 个：Tianjin
其他状态的试验（1 项）
  • 已完成NCT05651061
    A Phase I of SS109 in Hemophilia A or and B With Inhibitors
    I 期 · 干预性 · 2022/12/14Hangzhou Gensciences Biopharmaceutical Co., Ltd.
    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。

英国1加拿大1美国1

CT.gov 报告命中 4 项，此处取回并展示最近的 2 项。

  • 招募中NCT07347249
    A Clinical Study to Assess Sutacimig in Participants With Congenital Factor VII Deficiency
    II 期 · 干预性 · 2026/03/11Hemab ApS
    英国
  • 招募中NCT06349473
    A 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)
    I 期 · 干预性 · 2024/05/10Equilibra Bioscience LLC
    加拿大、美国

外部标识与链接

OrphanetOMIM:227500MONDO:0009211GARD:2238ICD-10 D68.2ICD-11 3B14.ZClinicalTrials.gov 检索

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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）