非典型溶血尿毒综合征
Atypical hemolytic uremic syndrome
定义 英文原文（暂无中文）
A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction.
别名
非典型HUS
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性、不适用
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 1 000 000（United States）
相关基因 6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 |
|---|---|---|
| C3 | complement C3 | ORPHA:544472 |
| CD46 | CD46 molecule | ORPHA:544472 |
| CFB | complement factor B | ORPHA:544472 |
| CFH | complement factor H | ORPHA:544472 |
| CFI | complement factor I | ORPHA:544472 |
| DGKE | diacylglycerol kinase epsilon | ORPHA:357008 |
临床表型 13
极常见 99–80%8
- 循环乳酸脱氢酶水平异常 HP:0045040
- 血液和造血组织异常 HP:0001871
- 代谢紊乱/稳态失衡 HP:0001939
- 急性肾损伤 HP:0001919
- 血尿 HP:0000790
- 微血管病性溶血性贫血 HP:0001937
- 蛋白尿 HP:0000093
- 血小板减少症 HP:0001873
常见 79–30%5
- 补体系统异常 HP:0005339
- 循环补体水平降低 HP:0004431
- 血栓调节素水平减低 HP:0040229
- 循环补体B因子浓度降低 HP:0005416
- 循环补体I因子浓度降低 HP:0005356
近两年的全球研究 838L2
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。
- 2026-07综述Aberrant neutrophil and complement activation in thrombotic microangiopathies in pregnancy - Is there a missing link?
- 2026-07Terminal complement inhibition is associated with renal, hematologic, and thrombotic complications during septic shock: A global propensity score-matched cohort study
- 2026-07Nursing care of an infant with atypical hemolytic uremic syndrome complicated by spontaneous bullous rupture and dystrophic wound calcification: A case report
- 2026-07CFI Mutation-Associated Atypical Hemolytic Uremic Syndrome Mimicking Autoimmune Hemolysis
- 2026-07Typical or atypical hemolytic uremic syndrome? That is the question
- 2026-07病例报告Postpartum Atypical Hemolytic Uremic Syndrome Complicating β-Thalassemia Intermedia: A Case Report and Literature Review
- 2026-07Complement-mediated thrombotic microangiopathy presenting as atypical hemolytic uremic syndrome during disease-modifying therapy for multiple sclerosis
- 2026-07Complement inhibitor therapy in atypical hemolytic uremic syndrome (aHUS): evaluating the economic impact of introducing eculizumab biosimilars in Germany
- 2026-07病例报告Systemic lupus erythematosus complicated by thrombotic microangiopathy with atypical HUS features: A case report
- 2026-07病例报告A case report of atypical hemolytic uremic syndrome with a CFH mutation complicated by recurrent posterior reversible encephalopathy syndrome
- 2026-06综述Complement System Inhibitors in Nephrology: A Comprehensive Review
- 2026-06病例报告Severe Class III Lupus Nephritis With Concurrent Thrombotic Microangiopathy and Suspected Atypical Hemolytic Uremic Syndrome Requiring Complement Blockade: A Complex Multisystem Presentation
- 2026-06病例报告Atypical Hemolytic Uremic Syndrome With Hypocellular Bone Marrow: A Report of a Rare Case
- 2026-06Clinicopathologic spectrum and prognostic determinants in biopsy-proven thrombotic microangiopathy
- 2026-06Impaired cellular trafficking of a thrombomodulin mutant causes severe bleeding, thrombosis, and atypical hemolytic uremic syndrome
- 2026-06综述病例报告开放获取Successful treatment of idiopathic multicentric Castleman disease with TAFRO and kidney involvement: case report and literature review
- 2026-06Ravulizumab administration for relapse prevention in atypical hemolytic uremic syndrome with a CFH variant: A case report
- 2026-06病例报告Influenza A-Associated Thrombotic Microangiopathy With Normal a Disintegrin and Metalloproteinase With Thrombospondin Type 1 Motif 13 (ADAMTS13) in a Young Male Patient: A Case Report
- 2026-06Multimodal Management of Anti-GBM Disease Complicated by Secondary Complement-Mediated Thrombotic Microangiopathy in a Patient Intolerant to Plasma Exchange: A Case Report
- 2026-06Renal-Limited Thrombotic Microangiopathy in Infants: A Case Series
国家医保药品目录中点名本病的药品 1L2
出自《国家基本医疗保险、生育保险和工伤保险药品目录（2025年）》（医保发〔2025〕33号，2026-01-01 起执行）。下列药品在药品名称或限定支付范围里出现了本病的名称。
匹配不到 ≠ 不能报销。目录里只有约一成药品设了限定支付范围，其余按适应症正常使用同样可报销；本区块只能回答「目录有没有点名这个病」，不能回答「这个病有没有药能报销」。各省执行细则、双通道与单独支付范围另有规定，请以当地医保部门口径为准。
- 依库珠单抗注射液乙类谈判药品限：1.阵发性睡眠性血红蛋白尿症(PNH)的患者；2.非典型溶血性尿毒症综合征(aHUS)的患者；3.抗乙酰胆碱受体(AChR)抗体阳性的难治性全身型重症肌无力(gMG)成人患者。
境外已获批用于本病的药物 3L2
欧盟 1 项、美国 2 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。
- Soliris欧盟2007-06-20eculizumab官方记录
- Soliris美国2011-09-23eculizumab官方记录
- Ultomiris美国2022-07-22ravulizumab-cwvz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。
- eculizumab美国2011-10-18该药获批用于溶血性尿毒症综合征，本病属于其中Treatment of Shiga-Toxin producing escherichia coli hemolytic uremic syndrome官方记录
- neutralizing equine anti-Stx hyperimmune immunoglobulin F(ab')2 fragme美国2019-08-19该药获批用于溶血性尿毒症综合征，本病属于其中Treatment of Shiga-toxin producing bacterial infection as it relates to the prevention of hemolytic uremic syndrome官方记录
- Phage-derived, non-replicative delivery vector carrying a DNA payload 美国2022-03-17该药获批用于溶血性尿毒症综合征，本病属于其中Treatment of Shiga-toxin producing Escherichia coli infection as it relates to the prevention of hemolytic uremic syndrome官方记录
- iptacopan美国2026-08-18treatment of atypical hemolytic uremic syndrome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 7L2
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NCT05935215Efficacy and Safety of Switching From Anti-C5 Antibody Treatment to Iptacopan Treatment in Study Participants With Atypical Hemolytic Uremic Syndrome (aHUS)中国研究中心 3 个：Beijing、Nanjing、Shanghai
- 招募中NCT05795140Evaluate Long-term Safety, Tolerability and Efficacy of Iptacopan in Study Participants With aHUS中国研究中心 1 个：Beijing
其他状态的试验（5 项）
- 进行中·不再招募NCT04861259A Study Evaluating the Efficacy, Safety, Pharmacokinetics and Pharmacodynamics of Crovalimab in Adult and Adolescent Participants With Atypical Hemolytic Uremic Syndrome (aHUS)中国研究中心 1 个：Beijing
- 进行中·不再招募NCT04958265A Study Evaluating the Efficacy, Safety, Pharmacokinetics and Pharmacodynamics of Crovalimab in Pediatric Participants With Atypical Hemolytic Uremic Syndrome (aHUS)中国研究中心 3 个：Beijing、Hangzhou
- 已完成NCT04889430Efficacy and Safety of Iptacopan (LNP023) in Adult Patients With Atypical Hemolytic Uremic Syndrome Naive to Complement Inhibitor Therapy中国研究中心 1 个：Beijing
- 已完成NCT05876351Eculizumab in Pediatric and Adult Participants With Atypical Hemolytic Uremic Syndrome (aHUS) in China中国研究中心 5 个：Beijing、Changsha、Qingdao、Taiyuan、Wuhan
- 进行中·不再招募NCT06099236A Prospective, Non-interventional, Observational Study of Presentation, Treatment Patterns and Outcomes in Atypical Hemolytic Uremic Syndrome Patients中国研究中心 24 个：Anhui、Beijing、Chongqing、Fujian、Guangdong、Guangxi 等 24 地
中国境外的在招试验 14L2
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。
意大利4澳大利亚3法国3英国3美国3波兰2德国2韩国2日本1荷兰1比利时1加拿大1丹麦1以色列1另有 5 个国家/地区
CT.gov 报告命中 14 项，此处取回并展示最近的 12 项。
- 尚未开始招募NCT05684159Study of NM8074 in Patients With aHUS With Evidence of Ongoing Thrombotic Microangiopathy
- 招募中NCT07399730Ravulizumab Outcomes in Polish Patients With aHUS波兰
- 招募中NCT07308574Post-Marketing Clinical Study of Ravulizumab in Participants With Clinical aHUS日本
- 招募中NCT06312644Study of Ultomiris® (Ravulizumab) Safety in Pregnancy澳大利亚、法国、德国、意大利、韩国、英国、美国
- 招募中NCT05996731Developing a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases意大利
- 招募中NCT05726916Eculizumab in Hypertensive Emergency-associated Hemolytic Uremic Syndrome法国
- 招募中NCT05805202Functional Implications of Rare Gene Mutations in aHUS Open the Door to Personalized Therapy意大利
- 招募中NCT04745195Complement Prospective Evaluation of Thrombotic Microangiopathy on Endothelium荷兰
- 招募中NCT01522183Atypical Hemolytic-Uremic Syndrome (aHUS) Registry澳大利亚、比利时、加拿大、丹麦、法国、德国、以色列、意大利 等 17 国
- 招募中NCT01793168Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford澳大利亚、美国
- 招募中NCT06065852National Registry of Rare Kidney Diseases英国
- 可获取（拓展性用药）NCT02355782OMS721 Compassionate Use in Patients With Thrombotic Microangiopathy
外部标识与链接
OrphanetOMIM:235400OMIM:609814OMIM:612922MONDO:0016244GARD:8702ICD-10 D59.3ICD-11 3A10.YClinicalTrials.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）