α-1-抗胰蛋白酶缺乏症
Alpha-1-antitrypsin deficiency
定义 英文原文（暂无中文）
A rare hereditary, metabolic disease characterized by serum levels of alpha-1-antitrypsin (AAT) that are well below the normal range. In the most severe form, the disease can clinically manifest with chronic liver disorders (cirrhosis, fibrosis), respiratory disorders (emphysema, bronchiectasis), and rarely panniculitis or vasculitis.
别名
Alpha-1-proteinase inhibitor deficiency、Alpha1-antitrypsin deficiency
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 各年龄段
- 患病率
- 1-5 / 10 000（Ireland）
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SERPINA1 | serpin family A member 1 | Disease-causing germline mutation(s) in |
临床表型 21
极常见 99–80%3
- 支气管扩张 HP:0002110
- 气肿 HP:0002097
- 循环α-1-抗胰蛋白酶水平降低 HP:0032025
常见 79–30%9
- 支气管炎 HP:0012387
- 一氧化碳弥散量减少 HP:0045051
- 循环肝转氨酶水平升高 HP:0002910
- 肝纤维化 HP:0001395
- 肝炎 HP:0012115
- 肝内包涵体 HP:6000976
- 黄疸 HP:0000952
- 新生儿高非结合胆红素血症 HP:0008176
- 新生儿黄疸期延长 HP:0006579
偶见 29–5%7
- 哮喘 HP:0002099
- 胆汁淤积 HP:0001396
- 慢性阻塞性肺疾病 HP:0006510
- 肝硬化 HP:0001394
- 细胞质抗中性粒细胞抗体阳性 HP:0032230
- 婴儿期生长障碍 HP:0001531
- 门脉高压 HP:0001409
罕见 <4–1%2
- 肝细胞癌 HP:0001402
- 脂膜炎 HP:0012490
近两年的全球研究 1,248L2
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。
- 2026-10综述Pushing the Boundaries of Knowledge in Alpha-1 Antitrypsin Deficiency
- 2026-10Vasculitis and Risk of Bronchiectasis in Alpha-1 Antitrypsin Deficiency Subjects from the EARCO Registry
- 2026-09Derivation of a peripheral blood-based transcriptomic risk score for extrapulmonary sarcoidosis
- 2026-09开放获取Polymeric alpha-1 antitrypsin perturbs Paneth cell proteostasis and exacerbates intestinal inflammation
- 2026-09The hidden burden of AATD: High prevalence of emotional distress and the 'care gap' in mental health support
- 2026-09开放获取Healthcare journey of preterm-born adults with respiratory disease: the EMPOWER survey
- 2026-09开放获取The TyG Index, Dietary Vitamin E Intake, and LRP5 rs4988321 in Adults with MASLD: A Case-Control Study
- 2026-09开放获取The Childhood Liver Disease Research Network's prospective characterization of pediatric primary sclerosing cholangitis
- 2026-09病例报告开放获取Memantine-Induced Cholestasis and Acute Hepatitis in an 8-Week-Old Term Infant
- 2026-09ALPHA-1 antitrypsin genotype, sex, and lung cancer: Clinical and molecular characterisation
- 2026-09[Panniculitis : Patterns and clues]
- 2026-09病例报告开放获取A Military Veteran with Pulmonary Fibrosis, Hepatic Cirrhosis, Bone Marrow Dysfunction and Shortened Telomeres Found to Have GAVE, a Potential Unsuspected Consequence of Telomere Spectrum Disorder
- 2026-09Obstructive Sleep Apnea in Individuals with Alpha-1 Antitrypsin Deficiency: A Single Center Experience
- 2026-09病例报告开放获取Delayed Diagnosis of Type 1 Gaucher Disease at Age 15 After Years of Mild Cytopenias and Splenomegaly: A Case Report and Long-Term Follow-Up
- 2026-09综述开放获取Basic Principles of Skin Biopsy Optimization in Dermatopathology
- 2026-09综述开放获取Engineering mRNA-LNP Medicines for the Ageing Brain: Opportunities and Challenges for Neurodegenerative Diseases
- 2026-09综述开放获取Current Advances in Liver-Targeted Drug Delivery: Synthetic, Biological, and Biomimetic Platforms
- 2026-09开放获取Recurrent and De Novo Cirrhosis After Liver Transplantation
- 2026-09开放获取Prolonged VV‐ECMO as a Bridge to Recovery From Persistent Hepatopulmonary Syndrome After Liver Transplantation: A Case Report
- 2026-09开放获取Clinical outcomes associated with GLP-1 receptor agonist use in metabolic dysfunction-associated steatohepatitis: A multinational cohort study
境外已获批用于本病的药物 0L2
欧盟与美国均未检索到已获批用于本病的药物。
尚未获批的在研药物（25 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。
- human alpha1-proteinase inhibitor欧盟2001-07-09Treatment of emphysema secondary to congenital alpha-1 antitrypsin deficiency官方记录
- Infinia欧盟2004-11-16alpha-1 antitrypsinTreatment of emphysema secondary to congenital alpha-1 antitrypsin deficiency官方记录
- recombinant adeno-associated viral vector containing human alpha-1 ant欧盟2007-03-20Treatment of congenital alpha-1 antitrypsin deficiency官方记录
- Cyclo[L-alanyl-L-seryl-L-isoleucyl-L-prolyl-L-prolyl-L-glutaminyl-L-ly欧盟2013-03-20Treatment of congenital alpha-1 antitrypsin deficiency官方记录
- N-acetylgalactosamine-conjugated synthetic double-stranded oligomer sp欧盟2018-07-31Treatment of congenital alpha-1 antitrypsin deficiency官方记录
- N-[(1R)-1-[(S)-(2-Chloro-3-fluorophenyl)hydroxymethyl]butyl]-7-fluoro-欧盟2024-07-25Treatment of congenital alpha-1 antitrypsin deficiency官方记录
- alvelestat欧盟2025-01-16Treatment of congenital alpha-1 antitrypsin deficiency官方记录
- efdoralprin alfa欧盟2025-12-09Treatment of alpha-1 antitrypsin deficiency官方记录
- guide RNA against the human SERPINA1 gene, mRNA encoding a CRISPR-asso欧盟2026-07-28Treatment of alpha-1 antitrypsin deficiency官方记录
- Transgenic human alpha 1 antitrypsin美国1999-05-19Treatment of emphysema secondary to alpha 1 antitrypsin deficiency.官方记录
- hyaluronic acid美国2002-03-19Treatment of emphysema in patients due to alpha-1 antitrypsin deficiency官方记录
- recombinant adeno-associated virus alpha 1-antitrypsin vector美国2003-01-27Treatment of alpha1-antitrypsin deficiency官方记录
- alpha1 proteinase inhibitor (human)美国2010-01-29Treatment of emphysema secondary to congenital alpha1-antitrypsin deficiency.官方记录
- double stranded oligomer ADS-001 RNA interference-based liver targeted美国2018-02-14Treatment of alpha-1 antitrypsin deficiency官方记录
- Recombinant human alpha-1 antitrypsin from Oryza sativa美国2020-02-19Treatment of alpha-1 antitrypsin deficiency官方记录
- CHO cell line produced human Alpha-1 Antitrypsin (CHO-AAT) protein美国2020-10-19treatment of alpha-1 antitrypsin deficiency官方记录
- Alvelestat美国2021-10-25Treatment of Alpha-1 Antitrypsin Deficiency官方记录
- IgG4 Fc linked recombinant human AAT (alpha-1 antitrypsin)美国2022-03-02Treatment of Congenital Alpha-1 Antitrypsin Deficiency (AATD)官方记录
- A replication-defective, non-integrating herpes simplex virus type 1-b美国2023-09-01Treatment of Alpha-1 antitrypsin deficiency官方记录
- oxoindoline carboxamide compound美国2023-12-12Treatment of alpha-1 antitrypsin deficiency官方记录
- RNA editing antisense oligonucleotide (ASO) KB100967 directed at the Z美国2025-03-12treatment of alpha-1 antitrypsin deficiency (AATD)官方记录
- lipid nanoparticles containing base editor CRISPR-Cas9 messenger RNA (美国2025-04-09treatment of alpha-1 antitrypsin deficiency官方记录
- a lipid nanoparticle-based therapy consisting of a guide RNA that targ美国2025-05-28treatment of alpha-1 antitrypsin deficiency官方记录
- in vivo target-primed reverse transcription genome editing product con美国2025-11-06treatment of alpha-1 antitrypsin deficiency (AATD)官方记录
- RNA editing antisense oligonucleotide (ASO)美国2025-11-19treatment of alpha-1 antitrypsin 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 1L2
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。
当前没有检索到登记为可入组的试验。
其他状态的试验（1 项）
- 进行中·不再招募NCT07193615Study of YOLT-202 in the Treatment of Alpha-1 Antitrypsin Deficiency (AATD)中国研究中心 1 个：Shanghai
中国境外的在招试验 24L2
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。
美国14英国6西班牙5德国4爱尔兰4葡萄牙4澳大利亚4法国4丹麦3荷兰3波兰3瑞典3奥地利3比利时2另有 9 个国家/地区
共 24 项。
- 尚未开始招募NCT07639996Natural Course and Molecular Basis of Alpha 1- Antitrypsin Deficiency-associated Liver Disease.
- 尚未开始招募NCT07326592Phase 4, Double-blind Study Evaluating the Response on Computed Tomography (CT) Lung Density Decline Rates of Respreeza / Zemaira Weekly for 3 Years in Adults With alpha1 Antitrypsin Deficiency (AATD)
- 尚未开始招募NCT07707635IBS-Oriented CDED Versus Low FODMAP Diet for Irritable Bowel Syndrome
- 招募中NCT07555483A Non-inferiority Pharmacokinetic and Safety/Tolerability Study of Two Different Doses of Weekly SC Alpha1-PI 15% Compared With Corresponding Standard IV Alpha1-PI in Participants With Alpha1-Antitrypsin Deficiency (AATD)丹麦、德国、爱尔兰、荷兰、波兰、葡萄牙、西班牙、瑞典 等 9 国
- 招募中NCT07227207A Study of TSRA-196 in Adults With PiZZ Alpha-1 Antitrypsin Deficiency (AATD)澳大利亚、英国、美国
- 招募中NCT07431112A Study of AIR-001 in Adults With Alpha-1 Antitrypsin Deficiency (AATD)澳大利亚、Georgia、葡萄牙、西班牙、英国
- 招募中NCT07715617Development of a Prediction Score for the Occurrence of Death or Lung Transplantation in Patients With Emphysema Secondary to Alpha-1-anti-tripsin Deficiency法国
- 尚未开始招募NCT07145385Prevalence of Alpha-1 Antitrypsin Deficiency in Non-Cirrhotic Liver Cancer法国
- 招募中NCT07135427Genetic Variation in IgG in Alpha 1 Antitrypsin Deficiency美国
- 招募中NCT07152834Screening for Alpha-1 Antitrypsin Deficiency in Patients With Airway Obstruction土耳其
- 招募中NCT06505603PiMZ Longitudinal Cohort (PiMZ Logic)美国
- 招募中NCT06996756Gene Therapy for Alpha 1- Antitrypsin Deficiency美国
- 招募中NCT06512454A Study in Adults to Learn About Inherited Alpha-1 Antitrypsin Deficiency (AATD) and AATD Related Liver Problems奥地利、德国、爱尔兰、西班牙、英国、美国
- 招募中NCT06389877A Study to Evaluate the Safety and Efficacy of BEAM-302 in Adult Patients With Alpha-1 Antitrypsin Deficiency (AATD)澳大利亚、爱尔兰、荷兰、新西兰、英国、美国
- 招募中NCT06165341Study to Learn About the Safety of Fazirsiran and if it Can Help People With Alpha-1 Antitrypsin Liver Disease With Mild Liver Scarring (Fibrosis)奥地利、比利时、加拿大、法国、德国、意大利、波兰、葡萄牙 等 13 国
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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）