囊性纤维化
Cystic fibrosis
定义 英文原文（暂无中文）
A rare, genetic pulmonary disorder characterized by sweat, thick mucus secretions causing multisystem disease, chronic infections of the lungs, bulky diarrhea and short stature.
别名
粘液粘稠病
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（Brazil）
相关基因 19
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SERPINA1 | serpin family A member 1 | Modifying germline mutation in |
| CFTR | CF transmembrane conductance regulator | Disease-causing germline mutation(s) (loss of function) in |
| TGFB1 | transforming growth factor beta 1 | Modifying germline mutation in |
| GCLC | glutamate-cysteine ligase catalytic subunit | Modifying germline mutation in |
| MIF | macrophage migration inhibitory factor | Modifying germline mutation in |
| HFE | homeostatic iron regulator | Modifying germline mutation in |
| SLC11A1 | solute carrier family 11 member 1 | Modifying germline mutation in |
| DCTN4 | dynactin subunit 4 | Modifying germline mutation in |
| CLCA4 | chloride channel accessory 4 | Modifying germline mutation in |
| STX1A | syntaxin 1A | Modifying germline mutation in |
| KCNN4 | potassium calcium-activated channel subfamily N member 4 | Modifying germline mutation in |
| EDNRA | endothelin receptor type A | Modifying germline mutation in |
| SLC9A3 | solute carrier family 9 member A3 | Modifying germline mutation in |
| HMOX1 | heme oxygenase 1 | Modifying germline mutation in |
| SLC6A14 | solute carrier family 6 member 14 | Modifying germline mutation in |
| SLC26A9 | solute carrier family 26 member 9 | Modifying germline mutation in |
| CEACAM3 | CEA cell adhesion molecule 3 | Modifying germline mutation in |
| CEACAM6 | CEA cell adhesion molecule 6 | Modifying germline mutation in |
| GSTM3 | glutathione S-transferase mu 3 | Modifying germline mutation in |
临床表型 35
极常见 99–80%7
- 输精管缺如 HP:0012873
- 气道阻塞 HP:0006536
- 支气管扩张 HP:0002110
- 汗液氯化物浓度升高 HP:0012236
- 胰腺外分泌功能不全 HP:0001738
- 吸收不良 HP:0002024
- 反复呼吸道感染 HP:0002205
常见 79–30%2
- 发育迟滞 HP:0001508
- 男性不育 HP:0003251
偶见 29–5%17
- 肝脏异常 HP:0001392
- 焦虑 HP:0000739
- 哮喘 HP:0002099
- 体重指数下降 HP:0045082
- 抑郁 HP:0000716
- 循环肝转氨酶水平升高 HP:0002910
- 胃食管反流 HP:0002020
- 胎粪性肠梗阻 HP:0004401
- 骨质减少 HP:0000938
- 直肠脱垂 HP:0002035
- 反复曲霉菌感染 HP:0002724
- 反复流感嗜血杆菌感染 HP:0005376
- 反复金黄色葡萄球菌感染 HP:0002726
- 反复下呼吸道感染 HP:0002783
- 每秒用力呼气量减少 HP:0032342
- 鼻窦炎 HP:0000246
- 脂肪泻 HP:0002570
罕见 <4–1%9
- 肝硬化 HP:0001394
- 听力受损 HP:0000365
- 咯血 HP:0002105
- 鼻息肉 HP:0100582
- 肾结石 HP:0000787
- 非结核分枝杆菌肺部感染 HP:0032261
- 骨质疏松 HP:0000939
- 气胸 HP:0002107
- 反复伯克霍尔德菌感染 HP:0002842
近两年的全球研究 16,554L2
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。
- 2026-09An Integrated Quality by Design RP-UPLC Method for Lumacaftor and Ivacaftor in Human Plasma
- 2026-09综述Potassium Channels of the Airway Epithelium
- 2026-09Impaired Renal Base Excretion in Secretin Receptor Knock-Out Mice During Prolonged Base-Loading
- 2026-09综述开放获取A Quarter Century of EHD Protein Research: From Endosomal Recycling to Ciliopathies
- 2026-08综述Nutrition and cardiometabolic health in cystic fibrosis: Emerging evidence and research gaps
- 2026-08T cell-intrinsic AIM2 exacerbates lung inflammation in OVA-LPS- and HDM-induced asthma models
- 2026-08Discovery of <i>Staphylococcus aureus</i> small RNAs highly expressed during human chronic infection
- 2026-08Functional specialization of mPFC-BLA and mPFC-NAc pathways in affective state representation
- 2026-08A Suspected Case of Allergic Bronchopulmonary Mycosis Associated With <i>Exophiala dermatitidis</i>
- 2026-08Preclinical models of COPD: a state of the art
- 2026-08Correlation between pulmonary outcomes and nutritional status following treatment with elexacaftor/tezacaftor/ivacaftor in people with Cystic fibrosis
- 2026-08Developing consensus on rare disease care pathways and ERN integration across Europe: insights from stakeholder workshops and a Delphi study
- 2026-08综述Cystic fibrosis-associated amyloid a amyloidosis: a rare but devastating complication with poor prognosis
- 2026-08Growing <i>Staphylococcus aureus</i> in synthetic cystic fibrosis medium promotes colonization in a murine pneumonia model
- 2026-08Complicated Acute Rhinosinusitis in Cystic Fibrosis: National Inpatient Pediatric Analysis
- 2026-08Pulmonary Outcomes in People with Cystic Fibrosis who Stop Chronic Daily Therapies: The HERO-2 Study
- 2026-08Clinical characteristics and outcomes of people with cystic fibrosis with homozygous minimal function genotypes compared to those with F508del/minimal function genotypes
- 2026-08The utilization of multiplex PCR with fragment analysis for carrier screening of spinal muscular atrophy
- 2026-08Successful Rapid Desensitization to Ceftazidime/Avibactam in a Patient With Cystic Fibrosis and Multidrug-Resistant <i>Pseudomonas aeruginosa</i> Pneumonia: A Case Report
- 2026-08Within-Person Sweat Chloride Variability in People with Cystic Fibrosis Measured via Wearable Microfluidic Sticker
境外已获批用于本病的药物 22L2
欧盟 12 项、美国 10 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。
- Cayston欧盟2009-09-21aztreonam官方记录
- Tobi Podhaler欧盟2011-07-20tobramycin官方记录
- Colobreathe欧盟2012-02-13colistimethate sodium官方记录
- Bronchitol欧盟2012-04-13mannitol官方记录
- Kalydeco欧盟2012-07-23ivacaftor官方记录
- Quinsair欧盟2015-03-25levofloxacin官方记录
- Orkambi欧盟2015-11-19lumacaftor;ivacaftor官方记录
- Symkevi欧盟2018-10-31tezacaftor;ivacaftor官方记录
- Kaftrio欧盟2020-08-21ivacaftor;tezacaftor;elexacaftor官方记录
- Arikayce liposomal欧盟2020-10-27amikacin官方记录
- Alyftrek欧盟2025-06-30deutivacaftor / tezacaftor / vanzacaftor官方记录
- Brinsupri欧盟2025-11-18Brensocatib官方记录
- Pulmozyme美国1993-12-30Dornase alfa官方记录
- TOBI美国1997-12-22Tobramycin for inhalation官方记录
- Cayston美国2010-02-22aztreonam官方记录
- Kalydeco美国2012-01-31ivacaftor官方记录
- Orkambi美国2015-07-02lumacaftor/ivacaftor官方记录
- Symdeko美国2018-02-12tezacaftor/ivacaftor; ivacaftor官方记录
- Trikafta美国2019-10-21elexacaftor, tezacaftor, and ivacaftor; ivacaftor官方记录
- Bronchitol®美国2020-10-30mannitol官方记录
- Orkambi美国2022-09-02lumacaftor and ivacaftor官方记录
- Alyftrek美国2024-12-20vanzacaftor, tezacaftor, and deutivacaftor官方记录
已获孤儿药资格、尚未获批的在研药物（115 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。
- L-Lysine-N-Acetyl-L-Cysteinate欧盟2001-02-14Treatment of cystic fibrosis官方记录
- Duramycin欧盟2002-11-13Treatment of cystic fibrosis官方记录
- recombinant dog gastric lipase欧盟2003-07-09Treatment of cystic fibrosis官方记录
- temocillin sodium欧盟2004-01-14Treatment of Burkholderia cepacia lung infection in cystic fibrosis官方记录
- alpha-1 antitrypsin欧盟2004-11-16Treatment of cystic fibrosis官方记录
- heparin (sodium)欧盟2006-05-22Treatment of cystic fibrosis官方记录
- amikacin sulfate欧盟2006-07-25Treatment of Pseudomonas aeruginosa lung infection in cystic fibrosis官方记录
- alginate oligosaccharide (G-block) fragment欧盟2007-09-14Treatment of cystic fibrosis官方记录
- avian polyclonal IgY antibody欧盟2008-09-23Treatment of cystic fibrosis官方记录
- ciprofloxacin欧盟2009-07-24Treatment of cystic fibrosis官方记录
- Hypothiocyanite;lactoferrin欧盟2009-07-24Treatment of cystic fibrosis官方记录
- nafamostat mesilate欧盟2010-09-20Treatment of cystic fibrosis官方记录
- sinapultide;Dipalmitoylphosphatidylcholine;palmitoyl-oleoyl phosphatid欧盟2011-10-27Treatment of cystic fibrosis官方记录
- cysteamine欧盟2011-12-09Treatment of cystic fibrosis官方记录
- alpha-1 proteinase inhibitor欧盟2012-10-10Treatment of cystic fibrosis官方记录
- recombinant human CXCL8 mutant欧盟2013-06-07Treatment of cystic fibrosis官方记录
- 4,6,4'-trimethylangelicin欧盟2013-06-19Treatment of cystic fibrosis官方记录
- nitric oxide欧盟2014-01-16Treatment of cystic fibrosis官方记录
- 11-(4-Dimethylamino-3-hydroxy-6-methyl-tetrahydro-pyran-2-yloxy)-2-eth欧盟2014-02-19Treatment of cystic fibrosis官方记录
- Plasmid DNA encoding the human cystic fibrosis transmembrane conductan欧盟2014-06-04Treatment of cystic fibrosis官方记录
- 1-(2,2-difluoro-1,3-benzodioxol-5-yl)-N-{1-[(2R)-2,3-dihydroxypropyl]-欧盟2014-07-04Treatment of cystic fibrosis官方记录
- 4-[[(1S,4S)-5-[[4-[4-(oxazol-2-yl)phenoxy]phenyl]methyl]-2,5-diazabicy欧盟2014-11-19Treatment of cystic fibrosis官方记录
- fosfomycin disodium;tobramycin欧盟2015-08-10Treatment of cystic fibrosis官方记录
- recombinant human acid ceramidase欧盟2015-08-10Treatment of cystic fibrosis官方记录
- sodium nitrite;ethylenediaminetetraacetic acid欧盟2016-05-30Treatment of cystic fibrosis官方记录
- Phosphoinositide 3-kinase gamma peptide欧盟2017-03-20Treatment of cystic fibrosis官方记录
- tamoxifen citrate欧盟2017-05-22Treatment of cystic fibrosis官方记录
- teicoplanin欧盟2017-08-23Treatment of cystic fibrosis官方记录
- (R)-2-(5-cyano-2-(6-(methoxycarbonyl)-7-methyl-3-oxo-8-(3-(trifluorome欧盟2018-02-22Treatment of cystic fibrosis官方记录
- 6-(R)-methyl-5-O-(5-amino-5,6-dideoxy-alpha-L-talofuranosyl)-paromamin欧盟2018-10-26Treatment of cystic fibrosis官方记录
- cyclo[L-alanyl-L-seryl-L-isoleucyl-L-prolyl-L-prolyl-L-glutaminyl-L-ly欧盟2018-11-19Treatment of cystic fibrosis官方记录
- Ivacaftor, potassium(benzenesulfonyl)({[6-(3-{2-[1-(trifluoromethyl) c欧盟2018-12-14Treatment of cystic fibrosis官方记录
- Poly(N-acetyl, N-arginyl)glucosamine欧盟2019-02-26Treatment of cystic fibrosis官方记录
- gallium citrate欧盟2019-08-21Treatment of cystic fibrosis官方记录
- Herpes simplex virus 1 expressing the human CFTR gene欧盟2021-03-26Treatment of cystic fibrosis官方记录
- adeno-associated viral vector serotype 2.5T encoding the human cystic 欧盟2021-05-20Treatment of cystic fibrosis官方记录
- 2’-O-(2-methoxyethyl)-5-methyl-P-thiocytidylyl-(3’-O->5’-O)-2’-O-(2-me欧盟2021-12-10Treatment of cystic fibrosis官方记录
- mRNA encoding the human CFTR gene欧盟2024-02-19Treatment of cystic fibrosis官方记录
- adeno-associated virus serotype A101 containing the codon-optimized hu欧盟2024-07-25Treatment of cystic fibrosis官方记录
- 4,9-Dimethyl-6-(4'-aminophenyl)-2H-furo[2,3-h]-1-benzopyran-2-one欧盟2024-11-10Treatment of cystic fibrosis官方记录
另有 75 项未列出。
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 25L2
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 9
- 招募中NCT05289245A National Registry on Chinese Patients With Cystic Fibrosis中国研究中心 1 个：Beijing
- 招募中NCT06528418Identification of Multiple Pulmonary Diseases Using Volatile Organic Compounds Biomarkers in Human Exhaled Breath中国研究中心 1 个：Guangzhou
- 招募中NCT06660992A Study to Assess the Efficacy and Safety of HSK31858 in Participants With Non-Cystic Fibrosis Bronchiectasis中国研究中心 2 个：Guangzhou、Yixingcun
- 尚未开始招募NCT06715956Observational Study of Sputum Inflammation Phenotypes and Clinical Outcomes in Non-Cystic Fibrosis Bronchiectasis中国研究中心 1 个：Guangzhou
- 招募中NCT06775340Study of RSS0343 Tablets in Patients With Non-cystic Fibrosis Bronchiectasis中国研究中心 1 个：Guangzhou
- 尚未开始招募NCT06981091A Multicenter, Randomized, Double-blind, Placebo-controlled Parallel-group Phase 2 Clinical Trial to Evaluate the Efficacy and Safety of XH-S004 Tablets in Patients With Non-cystic Fibrosis Bronchiectasis中国研究中心 1 个：Shanghai
- 招募中NCT07616375A Study to Assess the Safety of HSK31858 in Participants With Non-Cystic Fibrosis Bronchiectasis中国研究中心 1 个：Yixingcun
- 招募中NCT07245407A Translational Study for Phenotyping and Endotyping Chinese Patients With NCFBE中国研究中心 38 个：Anning、Beijing、Changchun、Changsha、Chengdu、Chongqing 等 25 地
- 尚未开始招募NCT07696091Study on Drug Interactions Affecting the Pharmacokinetics of RSS0343 Tablet中国研究中心 1 个：Guangzhou
其他状态的试验（16 项）
- 已完成NCT01116869China CellSearch Study中国研究中心 1 个：Beijing
- 已完成NCT02782312Salmeterol-Fluticasone Combined Inhaled Therapy for Non-cystic Fibrosis Bronchiectasis中国研究中心 1 个：Shanghai
- 已完成NCT01684683The Effect of Theophylline in the Treatment of Bronchiectasis中国研究中心 1 个：Guangzhou
- 状态未知NCT01801657The Role of Viral Infection in Acute Exacerbations of Non-cystic Fibrosis Bronchiectasis in Adults中国研究中心 1 个：Guangzhou
- 已完成NCT02081963Combined Administration of Nebulized Amikacin in Patients With Acute Exacerbation of Non-Cystic Fibrosis Bronchiectasis中国研究中心 1 个：Jinan
- 已完成NCT02088216Effect of Long-term, High-dose N-acetylcysteine on Exacerbations of Bronchiectaisis中国研究中心 1 个：Jinan
- 已完成NCT02106832Ciprofloxacin Dry Powder for Inhalation (DPI) in Non-cystic Fibrosis Bronchiectasis (Non-CF BE)中国研究中心 12 个：Beijing、Chengdu、Chongqing、Fuzhou、Guangzhou、Hohehot 等 12 地
- 状态未知NCT02507843Vitamin D as an Adjunctive Treatment in Patients With Non-Cystic Fibrosis Bronchiectasis中国研究中心 1 个：Shanghai
- 状态未知NCT02929420A Clinical Study on the Efficacy and Safety of the Treatment of Hyperplasia of Mammary Glands With Xiaoru Sanjie Capsule中国研究中心 1 个：Xi'an
- 已完成NCT03843541A Clinical Trial to Compare the Efficacy and Safety of 1-week Treatment of Intravenous N-acetylcysteine (NAC) 600 mg Twice Daily, Ambroxol Hydrochloride 30 mg Twice Daily and Placebo as Expectorant Therapies in Adult Chinese Patients With Respiratory Tract Diseases and Abnormal Mucus Secretions中国研究中心 31 个：Baotou、Beijing、Changchun、Chengdu、Chongqing、Deyang 等 21 地
- 已终止NCT05006573Efficacy and Safety of Benralizumab in Patients With Non-cystic Fibrosis Bronchiectasis中国研究中心 3 个：Guangzhou、Shanghai、Zhengzhou
- 状态未知NCT05604495Screening for Cystic Fibrosis and Cystic Fibrosis Related Disorders in Chinese Adults With Bronchiectasis中国研究中心 1 个：Shanghai
- 已完成NCT05601778A Study of HSK31858 in Participants with Non-Cystic Fibrosis Bronchiectasis中国研究中心 1 个：Guangzhou
- 进行中·不再招募NCT06106789A Study of the Clinical Benefit of Tobramycin Inhalation Solution中国研究中心 1 个：Jinan
- 已完成NCT06280391A Proof-of-Concept Study to Assess the Efficacy, Safety and Tolerability of Itepekimab (Anti-IL-33 mAb) in Participants With Non-cystic Fibrosis Bronchiectasis中国研究中心 8 个：Beijing、Changchun、Chengdu、Guangzhou、Shanghai、Shenyang 等 7 地
- 已完成NCT07289464A Clinical Study of RSS0343 in Healthy Subjects中国研究中心 1 个：Wuhan
中国境外的在招试验 188L2
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90法国23英国14加拿大10德国8埃及7西班牙5意大利5巴基斯坦4澳大利亚3希腊2波兰2比利时2葡萄牙2另有 14 个国家/地区
CT.gov 报告命中 188 项，此处取回并展示最近的 15 项。
- 尚未开始招募NCT07485010Testing a Novel Combination Treatment (Arm D) Versus Standard of Care for Intensive Phase Treatment for Mycobacterium Abscessus Pulmonary Disease in People With or Without Cystic Fibrosis in the Finding the Optimal Regimen for Mycobacterium Abscessus Treatment (FORMaT) Adaptive Platform Trial
- 招募中NCT07083557Routine Validation and Reproducibility Testing of Laboratory Assays and Research Techniques Used for Endocrine, Cardiometabolic, and Musculoskeletal Disorder Research (VALD)美国
- 尚未开始招募NCT04940533Pharmacokinetics of CFTR Modulators in Pregnant Individuals and in Postpartum Breastfeeding Mothers美国
- 尚未开始招募NCT07696338Rethinking Early Airway Clearence Therapies加拿大、美国
- 尚未开始招募NCT07665203Home Air Pollution in Children With Cystic Fibrosis Study
- 尚未开始招募NCT07692594Heart and Blood Vessels Health in People With Cystic Fibrosis英国
- 招募中NCT07223255Gastrointestinal Response of Pediatric Cystic Fibrosis Patients on Mediterranean Diet美国
- 招募中NCT07720375A Study of 24 to 52 Weeks Treatment to Evaluate The Efficacy And Safety of Galvokimig in Adult Study Participants With Non-Cystic Fibrosis Bronchiectasis美国
- 招募中NCT07275905Bacteriophages for Adults With Cystic Fibrosis and Chronic Achromobacter Lung Infection美国
- 尚未开始招募NCT07688070Verapamil Effect in Cystic Fibrosis-related Dysglycemia美国
- 尚未开始招募NCT07414810Novel Point-of-care Sweat Chloride Testing Device for Monitoring CFTR Function美国
- 招募中NCT07709494A Phase 1a/1b Study to Investigate the Safety, Tolerability, Microbiological Response, and Pharmacokinetics of Inhaled Rev-56 in Adult Healthy Volunteers and Adult Non-cystic Fibrosis Bronchiectasis (NCFB) Patients With Chronic P. Aeruginosa美国
- 尚未开始招募NCT07722364HFCWO in Children With Non-CF Bronchiectasis埃及
- 招募中NCT07729787Autogenic Drainage Versus Mechanical Percussion in Children With Cystic Fibrosis巴基斯坦
- 尚未开始招募NCT07163078Nutrition Supplement for Cystic Fibrosis美国
外部标识与链接
OrphanetOMIM:219700MONDO:0009061GARD:6233ICD-10 E84、E84.0、E84.1、E84.8ICD-11 CA25ClinicalTrials.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）