Primary ciliary dyskinesia: mechanisms and management

Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia that is predominantly inherited in an autosomal-recessive fashion. It is associated with abnormal ciliary structure and/or function leading to chronic upper and lower respiratory tract infections, male infertility, and situs inversus. The estimated prevalence of primary ciliary dyskinesia is approximately one in 10,000–40,000 live births. Diagnosis depends on clinical presentation, nasal nitric oxide, high-speed video-microscopy analysis, transmission electron microscopy, genetic testing, and immunofluorescence. Here, we review its clinical features, diagnostic methods, molecular basis, and available therapies.

• Publication year

  2017

• Venue

  The Application of Clinical Genetics

• Publication date

  2017-09-19

• Fields of study

  Medicine

• Identifiers
  DOI 10.2147/TACG.S127129PMID 29033599PMCID 5614735
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Primary ciliary dyskinesia

  2025cited by this paper
• Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis

  2017cited by this paper
• X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

  2017cited by this paper
• Diagnosis of primary ciliary dyskinesia: potential options for resource-limited countries

  2017cited by this paper
• Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia

  2017cited by this paper
• A randomised controlled trial on the effect of inhaled hypertonic saline on quality of life in primary ciliary dyskinesia

  2017cited by this paper
• European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

  2017cited by this paper
• Clinical phenotype and current diagnostic criteria for primary ciliary dyskinesia

  2016cited by this paper
• Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis

  2016cited by this paper
• Study protocol, rationale and recruitment in a European multi-centre randomized controlled trial to determine the efficacy and safety of azithromycin maintenance therapy for 6 months in primary ciliary dyskinesia

  2016cited by this paper
• Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia

  2016cited by this paper
• Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia

  2016cited by this paper
• Outcomes of lung transplantation for primary ciliary dyskinesia and Kartagener syndrome.

  2016cited by this paper
• Cilia dysfunction in lung disease.

  2015cited by this paper
• RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.

  2015cited by this paper
• Diagnosis and management of primary ciliary dyskinesia

  2015cited by this paper
• Clinical features of primary ciliary dyskinesia in Cyprus with emphasis on lobectomized patients.

  2015cited by this paper
• Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia

  2015cited by this paper
• Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

  2015cited by this paper
• Accuracy of diagnostic testing in primary ciliary dyskinesia

  2015influential reference
• The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

  2015cited by this paper
• Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype.

  2015influential reference
• Immunofluorescence analysis and diagnosis of primary ciliary dyskinesia with radial spoke defects

  2015cited by this paper
• Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.

  2015cited by this paper
• Technical and practical issues for tidal breathing measurements of nasal nitric oxide in children

  2015cited by this paper
• Genetics, diagnosis and future treatment strategies for primary ciliary dyskinesia

  2015cited by this paper
• Primary Ciliary Dyskinesia and Neonatal Respiratory Distress

  2014influential reference
• Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.

  2014cited by this paper
• Culture of Primary Ciliary Dyskinesia Epithelial Cells at Air-Liquid Interface Can Alter Ciliary Phenotype but Remains a Robust and Informative Diagnostic Aid

  2014cited by this paper
• Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

  2014cited by this paper
• Diagnosis and management of primary ciliary dyskinesia

  2014cited by this paper
• Recent advances in primary ciliary dyskinesia genetics

  2014cited by this paper
• The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia.

  2014cited by this paper
• Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.

  2014cited by this paper
• Diagnosis of primary ciliary dyskinesia: searching for a gold standard

  2014cited by this paper
• Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia.

  2013cited by this paper
• Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

  2013cited by this paper
• CCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic Cilia

  2013influential reference
• Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.

  2013cited by this paper
• Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

  2013cited by this paper
• ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.

  2013cited by this paper
• Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease.

  2013influential reference
• Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.

  2013cited by this paper
• A Post‐Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

  2013cited by this paper
• Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.

  2013cited by this paper
• DYX1C1 is required for axonemal dynein assembly and ciliary motility

  2013cited by this paper
• The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

  2013cited by this paper
• Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.

  2012cited by this paper
• Nitric oxide in primary ciliary dyskinesia

  2012influential reference
• Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

  2011cited by this paper
• Factors influencing age at diagnosis of primary ciliary dyskinesia in European children

  2010cited by this paper
• Primary ciliary dyskinesia in Amish communities.

  2010cited by this paper
• High prevalence of primary ciliary dyskinesia in a British Asian population

  2009cited by this paper
• Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.

  2009cited by this paper
• Exhaled nitric oxide in diagnosis and management of respiratory diseases

  2009influential reference
• Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

  2008cited by this paper
• Primary ciliary dyskinesia: current state of the art

  2007cited by this paper
• Mucociliary clearance – a critical upper airway host defense mechanism and methods of assessment

  2007cited by this paper
• Genetic defects in ciliary structure and function.

  2007cited by this paper
• Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.

  2006cited by this paper
• A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome

  2006cited by this paper
• Nodal flow and the generation of left-right asymmetry.

  2006cited by this paper
• RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

  2005cited by this paper
• Primary ciliary dyskinesia: diagnostic and phenotypic features.

  2004cited by this paper
• Cilia‐related diseases

  2004cited by this paper
• Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

  1999cited by this paper
• Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia.

  1999cited by this paper
• Airway response of children with primary ciliary dyskinesia to exercise and beta2-agonist challenge.

  1998cited by this paper
• Is resection of bronchiectasis beneficial in patients with primary ciliary dyskinesia?

  1996cited by this paper
• Fertility in men with primary ciliary dyskinesia presenting with respiratory infection.

  1994cited by this paper
• Situs inversus totalis and Kartagener's syndrome in a Japanese population.

  1972cited by this paper
• Transposition of Viscera – Bronchiectasis and Nasal Polyps

  1947cited by this paper

• Genetic aetiologies of bronchiectasis revisited: a new diagnosis of primary ciliary dyskinesia in adulthood.

  2026cites this paper
• Primary Ciliary Dyskinesia—Current Diagnostic and Therapeutic Approach

  2025influential citation
• Emerging insights into primary ciliary dyskinesia-associated hydrocephalus: a scoping review

  2025cites this paper
• WS6 enables scalable ex vivo expansion and gene editing of human basal epithelial cells

  2025cites this paper
• Case Report: Minigene assays reveal a novel DNAAF6 intronic variant as the key etiology for primary ciliary dyskinesia

  2025cites this paper
• Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia

  2024cites this paper
• Host–microbe interactions in the nasal cavity of dogs with chronic idiopathic rhinitis

  2024cites this paper
• Granulomatosis con poliangitis y síndrome de Kartagener

  2024cites this paper
• Delayed Diagnosis of Primary Ciliary Dyskinesia in Low-Middle-Income Countries: The Clinical Value of Nasal Nitric Oxide

  2024cites this paper
• High diagnostic rate of whole genome sequencing in primary ciliary dyskinesia

  2024cites this paper
• Cystic Lung Changes, Bronchiectasis, and a Heterozygous-Primary Ciliary Dyskinesia-Associated Variant in the DNAH5 Gene: A Diagnostic Challenge

  2024cites this paper
• Late Diagnosis of Kartagener Syndrome in an Adult Female

  2024cites this paper
• Primary ciliary dyskinesia as a rare cause of male infertility: case report and literature overview

  2024cites this paper
• Clinical Characteristics and Immune Responses in Children with Primary Ciliary Dyskinesia during Pneumonia Episodes: A Case–Control Study

  2023cites this paper
• Mathematical models of cystic fibrosis as a systemic disease.

  2023cites this paper
• Siewert–Kartagener’s syndrome in a dog

  2023cites this paper
• Schmidtea mediterranea as a Model Organism to Study the Molecular Background of Human Motile Ciliopathies

  2023cites this paper
• DNAH11 and a Novel Genetic Variant Associated with Situs Inversus: A Case Report and Review of the Literature

  2023cites this paper
• Primary ciliary dyskinesia: two different clinical cases

  2022cites this paper
• Multiomics Analysis of a DNAH5-Mutated PCD Organoid Model Revealed the Key Role of the TGF-β/BMP and Notch Pathways in Epithelial Differentiation and the Immune Response in DNAH5-Mutated Patients

  2022cites this paper
• Sinonasal disease among patients with primary ciliary dyskinesia: an international study

  2022cites this paper
• Primary Ciliary Dyskinesia: A Rare and Often Underdiagnosed Disease.

  2022cites this paper
• Identification of compound heterozygous DNAH11 variants in a Han‐Chinese family with primary ciliary dyskinesia

  2021cites this paper
• Tracheal motile cilia in mice require CAMSAP3 for the formation of central microtubule pair and coordinated beating

  2021cites this paper
• The Antimicrobial Activity of Peripheral Blood Neutrophils Is Altered in Patients with Primary Ciliary Dyskinesia

  2021cites this paper
• Ccdc103 promotes myeloid cell proliferation and migration independent of motile cilia

  2021cites this paper
• A simultaneous next-generation sequencing approach to the diagnosis of couple infertility.

  2021cites this paper
• Exome sequencing as the first‐tier test for pediatric respiratory diseases: A single‐center study

  2021cites this paper
• Ccdc103 promotes myeloid cell proliferation and migration independent of motile cilia.

  2021cites this paper
• Tracheal motile cilia in mice require CAMSAP3 for formation of central microtubule pair and coordinated beating

  2021influential citation
• Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China.

  2021cites this paper
• CiliarMove: new software for evaluating ciliary beat frequency helps find novel mutations by a Portuguese multidisciplinary team on primary ciliary dyskinesia

  2021cites this paper
• Novel Pathogenic DNAH5 Variants in Primary Ciliary Dyskinesia: Association with Visceral Heterotaxia and Neonatal Cholestasis

  2020cites this paper
• European Position Paper on Rhinosinusitis and Nasal Polyps 2020.

  2020cites this paper
• Genetic Anomalies of the Respiratory Tract

  2020cites this paper
• Characterization of Zebrafish Mutants to Model Human Genetic Defects in the LRRC56 Gene.

  2020cites this paper
• Haploid male germ cells-the Grand Central Station of protein transport.

  2020cites this paper
• Primäre Ziliendyskinesie (PCD) – interdisziplinäre Diagnostik und Therapie

  2020influential citation
• PRO: Primary Ciliary Dyskinesia: Genes are all you need!

  2020cites this paper
• Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China.

  2020cites this paper
• Recognizing genetic disease: A key aspect of pediatric pulmonary care

  2020cites this paper
• Dental Anomalies in Rare, Genetic Ciliopathic Disorder—A Case Report and Review of Literature

  2020influential citation
• Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing

  2020cites this paper
• Primary ciliary dyskinesia: a major player in a bigger game

  2020cites this paper
• Is Quarantine for COVID-19 Pandemic Associated with Psychological Burden in Primary Ciliary Dyskinesia?

  2020cites this paper
• A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report

  2020cites this paper
• Cilia-independent requirements for Ccdc103 promoting proliferation and migration of myeloid cells

  2020cites this paper
• Salzmann's nodular degeneration in a patient with Kartagener syndrome.

  2020cites this paper
• Dysplasia of the fibrous sheath with axonemal and centriolar defects combined with lack of mitochondrial activity as associated factors of ICSI failure in primary ciliary dyskinesia syndrome

  2020cites this paper
• Primary ciliary dyskinesia: a€major player in a bigger game

  2020cites this paper
• A Japanese Case of Primary Ciliary Dyskinesia with DNAH5 Mutations

  2019cites this paper
• Pediatric Pulmonology

  2019cites this paper
• Primary ciliary dyskinesia among Arabs: Where do we go from here?

  2019cites this paper
• Primary ciliary dyskinesia: modern approaches to the diagnostics and treatment

  2019cites this paper
• Primary Ciliary Dyskinesia ( PCD ) Registry in Alberta , Canada : Initial Results

  2019cites this paper
• Current Understanding of Nasal Epithelial Cell Mis-Differentiation

  2019cites this paper
• Primary ciliary dyskinesia (PCD): A genetic disorder of motile cilia

  2019cites this paper
• Rare mutation of the CCNO gene in patients with primary ciliary dyskinesia

  2018cites this paper
• Seeing cilia: imaging modalities for ciliary motion and clinical connections.

  2018cites this paper
• РЕДКАЯ МУТАЦИЯ ГЕНА CCNO У ПАЦИЕНТА С ПЕРВИЧНОЙ ЦИЛИАРНОЙ ДИСКИНЕЗИЕЙ

  2018cites this paper
• Vulnerability to Nontuberculous Mycobacterial Lung Disease or Systemic Infection Due to Genetic/Heritable Disorders

  2018cites this paper
• Identification of an Immortalized Human Airway Epithelial Cell Line with Dyskinetic Cilia

  2018cites this paper
• Mucociliary Defense: Emerging Cellular, Molecular, and Animal Models

  2018cites this paper
• Catch the Wave: Quantitatively Assessing Airway Ciliary Function as a Diagnostic Tool.

  2018cites this paper
• Acquired and genetic host susceptibility factors and microbial pathogenic factors that predispose to nontuberculous mycobacterial infections.

  2018cites this paper
• Fertility and infertility: Definition and epidemiology.

  2018cites this paper
• Edinburgh Research Explorer Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia

  year unknowncites this paper