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原发性纤毛运动障碍

Primary ciliary dyskinesia

ORPHA:244疾病中国目录 第2批 · 64

定义 英文原文（暂无中文）

A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).

别名

PCD

基本事实

遗传方式
常染色体显性、常染色体隐性、X 连锁隐性
发病年龄
新生儿期
患病率
1-5 / 10 000（Pakistan）

相关基因 53

基因名称关联类型
RPGRretinitis pigmentosa GTPase regulatorDisease-causing germline mutation(s) in
DNAH11dynein axonemal heavy chain 11Disease-causing germline mutation(s) in
DNAH5dynein axonemal heavy chain 5Disease-causing germline mutation(s) in
DNAI1dynein axonemal intermediate chain 1Disease-causing germline mutation(s) in
OFD1OFD1 centriole and centriolar satellite proteinDisease-causing germline mutation(s) in
NME8NME/NM23 family member 8Disease-causing germline mutation(s) in
DNAI2dynein axonemal intermediate chain 2Disease-causing germline mutation(s) in
DNAAF2dynein axonemal assembly factor 2Disease-causing germline mutation(s) in
RSPH9radial spoke head component 9Disease-causing germline mutation(s) in
RSPH4Aradial spoke head component 4ADisease-causing germline mutation(s) in
DNAAF1dynein axonemal assembly factor 1Disease-causing germline mutation(s) in
CCDC39coiled-coil domain 39 molecular ruler complex subunitDisease-causing germline mutation(s) in
CCDC40coiled-coil domain 40 molecular ruler complex subunitDisease-causing germline mutation(s) in
DNAL1dynein axonemal light chain 1Disease-causing germline mutation(s) in
DNAAF3dynein axonemal assembly factor 3Disease-causing germline mutation(s) in
DNAAF19dynein axonemal assembly factor 19Disease-causing germline mutation(s) in
DNAAF5dynein axonemal assembly factor 5Disease-causing germline mutation(s) in
HYDINHYDIN axonemal central pair apparatus proteinDisease-causing germline mutation(s) (loss of function) in
DNAAF11dynein axonemal assembly factor 11Disease-causing germline mutation(s) (loss of function) in
ODAD1outer dynein arm docking complex subunit 1Disease-causing germline mutation(s) (loss of function) in
DRC1dynein regulatory complex subunit 1Disease-causing germline mutation(s) (loss of function) in
ODAD2outer dynein arm docking complex subunit 2Disease-causing germline mutation(s) (loss of function) in
DNAAF4dynein axonemal assembly factor 4Disease-causing germline mutation(s) (loss of function) in
RSPH1radial spoke head component 1Disease-causing germline mutation(s) (loss of function) in
ZMYND10zinc finger MYND-type containing 10Disease-causing germline mutation(s) (loss of function) in
CFAP298cilia and flagella associated protein 298Disease-causing germline mutation(s) in
DRC2dynein regulatory complex subunit 2Disease-causing germline mutation(s) in
SPAG1sperm associated antigen 1Disease-causing germline mutation(s) in
CCNOcyclin ODisease-causing germline mutation(s) (loss of function) in
DNAH1dynein axonemal heavy chain 1Disease-causing germline mutation(s) in
ODAD3outer dynein arm docking complex subunit 3Disease-causing germline mutation(s) (loss of function) in
RSPH3radial spoke head 3Disease-causing germline mutation(s) in
DRC4dynein regulatory complex subunit 4Disease-causing germline mutation(s) (loss of function) in
DNAJB13DnaJ heat shock protein family (Hsp40) member B13Disease-causing germline mutation(s) (loss of function) in
ODAD4outer dynein arm docking complex subunit 4Disease-causing germline mutation(s) (loss of function) in
MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle proteinDisease-causing germline mutation(s) (loss of function) in
DNAAF6PIH1 domain containing 3Disease-causing germline mutation(s) (loss of function) in
STK36serine/threonine kinase 36Disease-causing germline mutation(s) (loss of function) in
FOXJ1forkhead box J1Disease-causing germline mutation(s) (loss of function) in
CFAP300cilia and flagella associated protein 300Disease-causing germline mutation(s) (loss of function) in

临床表型 47

常见 79–30%13

  • 精子运动异常 HP:0012206
  • 痰液异常 HP:0032016
  • 慢性中耳炎 HP:0000389
  • 慢性鼻炎 HP:0002257
  • 慢性鼻窦炎 HP:0011109
  • 男性不育 HP:0003251
  • 鼻塞 HP:0001742
  • 鼻息肉 HP:0100582
  • 新生儿呼吸窘迫 HP:0002643
  • 痰咳 HP:0031245
  • 反复发作型中耳炎 HP:0000403
  • 反复鼻窦及肺感染 HP:0005425
  • 呼吸道感染 HP:0011947

偶见 29–5%20

  • 心血管系统形态异常 HP:0030680
  • 心脏形态异常 HP:0001627
  • 泌尿生殖系统异常 HP:0000119
  • 骨骼系统异常 HP:0000924
  • 气道阻塞 HP:0006536
  • 肺不张 HP:0100750
  • 支气管扩张 HP:0002110
  • 杵状指 HP:0001217
  • 传导性听力受损 HP:0000405
  • 语言发育迟缓 HP:0000750
  • 异位妊娠 HP:0031456
  • 女性不孕症 HP:0008222
  • 听力受损 HP:0000365
  • 支气管结石 HP:0032543
  • 中枢神经系统的形态异常 HP:0002011
  • 支气管周围血管间质增厚 HP:0025177
  • 肺原位异位 HP:0011617
  • 反复分枝杆菌感染 HP:0011274
  • 全内脏反位 HP:0001696
  • 哮鸣音 HP:0030828

罕见 <4–1%14

  • 心房排布异常 HP:0011535
  • 下腔静脉畸形 HP:0025576
  • 肺静脉回流异常 HP:0010772
  • 无脾 HP:0001746
  • 心房不定位 HP:0011539
  • 右室双出口 HP:0001719
  • 脑积水 HP:0000238
  • 肠旋转不良 HP:0002566
  • 左侧上腔静脉永存 HP:0005301
  • 多脾 HP:0001748
  • 呼吸衰竭 HP:0002878
  • 杆锥体营养不良 HP:0000510
  • 大动脉转位 HP:0001669
  • 巨脑室 HP:0002119

近两年的全球研究 1,501L2

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
    Primary Ciliary Dyskinesia: Use of Airway Clearance in the NICU and Beyond
    NeoReviews · DOI · Europe PMC
  • 2026-10开放获取
    Airway imaging practices in primary ciliary dyskinesia: a global survey to guide standardized guidelines
    The British journal of radiology · DOI · Europe PMC
  • 2026-09开放获取
    Intermediate-Phenotype ABCA3 Deficiency Caused by Compound Heterozygous Variants Presenting as Persistent Respiratory Failure and Systemic Hypertension Since Birth in a Term Infant: A Case Report
    Clinical case reports · DOI · Europe PMC
  • 2026-09开放获取
    A General High‐Throughput Mucus Microrheology Platform for Quantitative and Scalable Mucus Phenotyping
    Advanced Science
  • 2026-09开放获取
    Systematic review of artificial intelligence and digital-automated tools for screening, diagnosis and characterisation of primary ciliary dyskinesia
    ERJ open research · DOI · Europe PMC
  • 2026-09开放获取
    Mapping challenges in the delivery of care for primary ciliary dyskinesia: an international survey on barriers and priorities
    ERJ open research · DOI · Europe PMC
  • 2026-09开放获取
    Automated GenePy gene-burden computation via a reproducible Nextflow workflow integrated with the Genomics England (GEL) Lifebit platform
    NAR genomics and bioinformatics
  • 2026-09
    Biallelic DAW1 variants reveal a tissue-specific role in heterotaxy without primary ciliary dyskinesia
    European journal of human genetics : EJHG · DOI · Europe PMC
  • 2026-09病例报告
    Clinical Characteristics of Patients With Fontan Circulation and Primary Ciliary Dyskinesia: A Case Series From the SV-ONE Registry
    JACC. Case reports · DOI · Europe PMC
  • 2026-09开放获取
    Effects of hypertonic saline and/or carbocisteine on sputum rheology in bronchiectasis: CLEAR-EME
    ERJ open research · DOI · Europe PMC
  • 2026-09综述
    [Bronchiectasis in children: An underdiagnosed disease with accessible screening and etiological assessment]
    Revue des maladies respiratoires · DOI · Europe PMC
  • 2026-09综述开放获取
    The lung microbiome in childhood-onset severe neuromuscular disease with respiratory insufficiency: rationale, current evidence, and opportunities for oxford nanopore long-read sequencing
    Molecular and cellular pediatrics · DOI · Europe PMC
  • 2026-09开放获取
    Nebulized Epinephrine Versus Placebo in Infants with Moderate-to-Severe Bronchiolitis: A Randomized Controlled Trial
    Children (Basel, Switzerland) · DOI · Europe PMC
  • 2026-09开放获取
    Therapeutic Switching of Biological Drugs in Paediatric Severe Asthma: Experience of a Referral Centre
    Biomedicines · DOI · Europe PMC
  • 2026-09
    In situ structure of the human ciliary transition zone links linker defects to primary ciliary dyskinesia
    Science (New York, N.Y.) · DOI · Europe PMC
  • 2026-09开放获取
    Understanding Nasal Polyposis: The Roles of Ion Channels, Inflammation, Ionocytes, and Prostaglandin E2-The I&lt;sup&gt;3&lt;/sup&gt;PGE&lt;sub&gt;2&lt;/sub&gt; Hypothesis
    Journal of clinical medicine · DOI · Europe PMC
  • 2026-09综述开放获取
    ERS Congress 2025: highlights from the Paediatrics Assembly
    ERJ open research · DOI · Europe PMC
  • 2026-09综述开放获取
    Pulmonary exacerbations in primary ciliary dyskinesia
    European journal of pediatrics · DOI · Europe PMC
  • 2026-09
    Biallelic nonsense variants in GAS8 associated with asthenoteratozoospermia and PCD-like symptoms
    Journal of human genetics · DOI · Europe PMC
  • 2026-09开放获取
    Phase III AIRTIVITY study design: verducatib (BI 1291583) in people with bronchiectasis
    ERJ open research · DOI · Europe PMC

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（6 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。

  • Cyclo[L-alanyl-L-seryl-L-isoleucyl-L-prolyl-L-prolyl-L-glutaminyl-L-ly欧盟2017-02-27
    Treatment of primary ciliary dyskinesia
    官方记录
  • 3,5-diamino-6-chloro-N-(N-(4-(4-(2-(hexyl((2S,3R,4R,5R)-2,3,4,5,6-pent欧盟2020-11-16
    Treatment of primary ciliary dyskinesia
    官方记录
  • messenger ribonucleic acid coding for coiled-coil domain-containing pr欧盟2023-07-25
    Treatment of primary ciliary dyskinesia
    官方记录
  • 3,5-diamino-6-chloro-N-(N-(4-(4-(2-(hexyl((2S,3R,4R, 5R)-2,3,4,5,6-pen美国2020-05-05
    Treatment of Primary Ciliary Dyskinesia
    官方记录
  • mRNA encoding the ciliary protein CCDC40美国2023-09-26
    Treatment of primary ciliary dyskinesia
    官方记录
  • DNAI1 mRNA encapsulated in a selective organ targeting lipid nanoparti美国2024-06-25
    treatment of primary ciliary dyskinesia
    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。

中国境外的在招试验 23L2

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8法国3瑞士3土耳其2希腊1墨西哥1英国1French Polynesia1德国1

共 23 项。

  • 尚未开始招募NCT07740538
    Malnutrition and Sarcopenia Among Primary Ciliary Dyskinesia
    观察性 · 2026/08/03Izmir Democracy University
    土耳其
  • 尚未开始招募NCT07740551
    Comparison of Individuals With Primary Ciliary Dyskinesia and Healthy Controls
    观察性 · 2026/08/01Izmir Democracy University
    土耳其
  • 尚未开始招募NCT07699302
    Clearance in Primary Ciliary Dyskinesia
    不适用 · 干预性 · 2026/07/30University of North Carolina, Chapel Hill
    美国
  • 招募中NCT07566611
    Primary Ciliary Dyskinesia in Adult Bronchiectasis
    不适用 · 干预性 · 2026/07/17Indiana University
    美国
  • 尚未开始招募NCT07376187
    Digital Physiotherapy for Pediatric Chronic Suppurative Lung Diseases
    不适用 · 干预性 · 2026/05/01University of Thessaly
    希腊
  • 尚未开始招募NCT07531277
    Developing Resource Interventions for Healthcare Professionals and Patients to Improve Knowledge About Fertility in Primary Ciliary Dyskinesia
    不适用 · 干预性 · 2026/04/01University of Southampton
  • 招募中NCT06959251
    Glycine and Magnesium+Thiamine for the Treatment of Primary Ciliary Dyskinesia
    不适用 · 干预性 · 2025/10/02Instituto Nacional de Enfermedades Respiratorias
    墨西哥
  • 招募中NCT07274631
    A Cohort for Inflammatory Respiratory Diseases: From Phenotyping to Personalised Medicine
    观察性 · 2025/09/15CHU de Reims
    法国
  • 招募中NCT07029594
    Thermal Spa Treatment and Improvement of Primary Ciliary Dyskinesia
    不适用 · 干预性 · 2025/09/05Association Francaise pour la Recherche Thermale
    法国
  • 招募中NCT07357558
    A Qualitative Study Investigating the Lived Experiences and Impact of Reproductive Issues in Adults With Primary Ciliary Dyskinesia
    观察性 · 2025/09/02University Hospital Southampton NHS Foundation Trust
    英国
  • 招募中NCT04798950
    Bronchi Dilation in Polynesian Patients: Monocentric Retrospective Study
    观察性 · 2025/06/01Centre Hospitalier Intercommunal Creteil
    French Polynesia
  • 招募中NCT05889013
    Utility of PCD Diagnostics to Improve Clinical Care
    观察性 · 2023/10/17Connecticut Children's Medical Center
    美国
  • 招募中NCT07288827
    Examining Bronchial Hyperresponsiveness in Primary Ciliary Dyskinesia
    不适用 · 干预性 · 2023/05/04Indiana University
    美国
  • 招募中NCT05287022
    Use of Nasal Nitric Oxide Testing in Improving Primary Ciliary Dyskinesia Clinical Care
    观察性 · 2021/06/14Arkansas Children's Hospital Research Institute
    美国
  • 招募中NCT04602481
    Living With Primary Ciliary Dyskinesia (Living With PCD)
    观察性 · 2020/05/31University of Bern
    瑞士

外部标识与链接

OrphanetOMIM:215518OMIM:215520OMIM:242670MONDO:0016575GARD:4484ICD-10 Q34.8ICD-11 LA75.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）