Primary Ciliary Dyskinesia

  1. What Is Primary Ciliary Dyskinesia?
  2. Ciliary Ultrastructure and Genetic Basis
  3. Situs Inversus and Kartagener Syndrome
  4. Clinical Features: Respiratory and Beyond
  5. Diagnosis: nNO, TEM, and Genetic Testing
  6. Airway Clearance Therapy
  7. Managing Infections and Complications
  8. Fertility Outcomes and Reproductive Options
  9. Key Research Papers
  10. Connections
  11. Featured Videos

1. What Is Primary Ciliary Dyskinesia?

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder of motile cilia, usually inherited in an autosomal recessive pattern (Zariwala 2007; Leigh 2009). Cilia are hair-like structures extending from the cell surface. In PCD the airway cilia are defective, and the main respiratory features — chronic bronchitis leading to bronchiectasis, chronic rhinosinusitis and chronic otitis media — reflect impaired mucociliary clearance, the process by which cilia move mucus out of the airways (Leigh 2009).

How common PCD is remains uncertain. A 2009 review gives an estimated incidence of about 1 in 16,000 births, based on the prevalence of situs inversus and bronchiectasis (Leigh 2009). A 2022 analysis of disease-causing variants in 29 PCD genes among 182,681 people calculated a minimum global prevalence of at least 1 in 7,554, which its authors describe as likely an underestimate, with a higher expected frequency in people of African ancestry (Hannah 2022). A survey in which 223 centres in 26 European countries reported 1,009 diagnosed patients under 20 found a median age at diagnosis of 5.3 years — 3.5 years in children with situs inversus versus 5.8 years in those without — and concluded that PCD in children is under-diagnosed and diagnosed late (Kuehni 2010).

The first cases, reported in the early 1900s, had a triad of chronic sinusitis, bronchiectasis and situs inversus (a mirror-image arrangement of the organs) that became known as Kartagener syndrome; later work showed that the cilia of such patients were defective in structure and movement (Leigh 2009). Situs inversus totalis occurs in roughly half of people with PCD (Kennedy 2007).

There is no cure. A 2016 North American consensus noted that no prospective randomized trials of monitoring or treating PCD existed, so physicians adapt approaches from cystic fibrosis and non-CF bronchiectasis (Shapiro 2016); the first multinational randomized drug trial in PCD, of azithromycin, was published in 2020 (Kobbernagel 2020). In a French cohort of 78 adults followed for a median of 8.1 years, the decline in lung function was heterogeneous and usually moderate, and 4% developed chronic respiratory failure (Frija-Masson 2017).

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2. Ciliary Ultrastructure and Genetic Basis

Understanding PCD requires understanding the architecture of a normal motile cilium — because PCD is fundamentally a defect of that architecture or of its assembly.

The 9+2 Axonemal Structure

Motile airway cilia have a "9+2" pattern: nine peripheral microtubule pairs surrounding a central pair, visible on cross-section by transmission electron microscopy (TEM). A ciliated airway cell bears approximately 200 motile cilia, which beat in synchrony in a waveform with a forward effective stroke and a recovery stroke; normal ciliary beat frequency ranges from approximately 8–20 Hz (Leigh 2009). The ciliary genome is highly conserved from simple unicellular organisms to mammalian cells (Leigh 2009).

Dynein Arms: The Motors

The peripheral microtubule pairs carry dynein arms, large protein complexes containing ATPases that act as molecular motors, sliding the peripheral pairs relative to one another. The outer dynein arms (ODA) sit nearer the ciliary membrane and the inner dynein arms (IDA) nearer the central apparatus; each arm is made of several heavy, intermediate and light chains (Leigh 2009).

Radial Spokes and Nexin Links

Accessory structures, including the nexin links, radial spokes and ciliary membrane, are thought to convert the sliding of microtubule pairs into the bending of the ciliary waveform (Leigh 2009). According to the 2017 European Respiratory Society (ERS) guideline, mutations in genes encoding radial spoke head and stalk proteins (RSPH1, RSPH3, RSPH4A, RSPH9), HYDIN and nexin-dynein regulatory complex proteins (DRC1, CCDC65, GAS8) can cause PCD with normal or only subtly abnormal ultrastructure (Lucas 2017) — one reason a normal electron microscopy result does not rule PCD out.

The Genetic Landscape of PCD

The 2017 ERS guideline lists mutations in more than 30 genes reported to cause PCD (Lucas 2017); a 2021 review gives over 50 (Jayasena 2021). Examples:

Patterns differ between populations: the 2022 genetic-database analysis found that the five genes most commonly implicated in PCD differed across ancestries (Hannah 2022). The 2016 North American consensus noted that approximately 30% of people with PCD have no identifiable mutation in the PCD genes known at the time (Shapiro 2016).

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3. Situs Inversus and Kartagener Syndrome

One of PCD's most striking features is its association with laterality defects. Situs inversus totalis is a mirror-image arrangement of the organs; situs ambiguus is an arrangement somewhere between normal and mirror image and may be associated with complex congenital heart disease (heterotaxy) (Shapiro 2016). When situs inversus occurs together with chronic sinusitis and bronchiectasis, the combination is known as Kartagener syndrome (Leigh 2009).

Why Situs Inversus Occurs — and Why Only Half the Time

Cilia at the embryonic node have a 9+0 structure with dynein arms and beat with a vertical motion that is thought to direct a "leftward" flow across the node, which is needed to establish normal left/right asymmetry. Without functional nodal cilia, thoracoabdominal orientation is random rather than genetically pre-programmed (Leigh 2009).

In a study of 337 people with PCD, 46.0% had normal organ arrangement (situs solitus), 47.7% had situs inversus totalis and 6.3% (21 patients) had heterotaxy (Kennedy 2007). The 2016 North American consensus puts situs ambiguus at "at least 12%" of PCD (Shapiro 2016), and a 2009 review notes that situs inversus totalis tends to be more frequent in paediatric series (over 60%) than in adult series (about 50%) (Leigh 2009).

Clinical Implications of Laterality Defects

Laterality defects and PCD genotype are linked: in the 337-patient study, people with situs abnormalities had more outer dynein arm defects and more mutations in DNAI1 and DNAH5 than those with normal situs (Kennedy 2007). Twelve of the 21 patients with heterotaxy had cardiac and/or vascular abnormalities, most of them (8 of 12) complex congenital heart disease, and the authors estimated the prevalence of congenital heart disease with heterotaxy to be 200-fold higher in PCD than in the general population (Kennedy 2007). Some genotypes — radial spoke genes, CCNO, MCIDAS, HYDIN and the nexin-dynein regulatory complex genes — have not been associated with laterality defects (Lucas 2017).

A normal organ arrangement does not exclude PCD. In the two studies pooled by the ERS guideline (1,048 patients), any situs abnormality had a sensitivity of about 0.51 for PCD (Lucas 2017), and the guideline recommends that patients with normal situs and symptoms suggestive of PCD be referred for diagnostic testing (strong recommendation) (Lucas 2017).

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4. Clinical Features: Respiratory and Beyond

PCD affects organs where motile cilia work: the airways, sinuses, middle ears, the embryonic node and the reproductive tract. The 2016 North American consensus lists neonatal respiratory distress, chronic wet cough with recurrent lower respiratory infections and bronchiectasis, chronic nasal drainage with pansinusitis, recurrent otitis media, laterality defects and male infertility as features whose combination markedly increases the likelihood of PCD; most patients have three or more of them (Shapiro 2016).

Neonatal Respiratory Distress

The same consensus reports that at least 80% of newborns with PCD develop respiratory distress despite a full-term birth. Most are well immediately after birth and develop distress at 12–24 hours of life, and, unlike transient tachypnea of the newborn, frequently need supplemental oxygen for days to weeks (Shapiro 2016). In a cohort of 78 people with PCD, 73% had neonatal respiratory symptoms (Noone 2004). A 2009 review suggests that motile cilia play a role in clearing fluid from the lungs during the transition from fetal to newborn life (Leigh 2009).

Chronic Wet Cough from Infancy

A daily, year-round wet cough starting in the first year of life is one of the major clinical criteria in the North American consensus (Shapiro 2016). Because wet cough was the main reason for referral, it was present in almost everyone tested in the PICADAR derivation cohort and did not discriminate well between those with and without PCD (sensitivity 0.93, specificity 0.15) (Lucas 2017).

Chronic Rhinosinusitis

Chronic rhinitis or sinusitis was present in all 78 patients in one cohort (Noone 2004). The 2016 consensus reports year-round daily nasal congestion in at least 80% of people with PCD, and pansinusitis in almost all who have sinus imaging (Shapiro 2016). In 86 consecutive patients referred for PCD testing, the frontal and/or sphenoidal sinuses were aplastic or hypoplastic on CT in 30 of 41 (73%) with PCD, compared with 17 of 45 (38%) with secondary ciliary dyskinesia (Pifferi 2011).

Recurrent Otitis Media

Recurrent otitis media was present in 95% of patients in one cohort (Noone 2004). The 2016 consensus reports chronic middle ear effusion in at least 80% of children with PCD, particularly in the first year of life, and lists multiple sets of pressure equalization tubes, conductive hearing loss, speech and language delay, and the need for hearing aids among its complications (Shapiro 2016).

Bronchiectasis

Bronchiectasis — permanent widening of the airways from repeated infection and inflammation — is an age-related finding in PCD. According to the 2016 consensus, it predominantly affects the middle and lower lobes, about 50% of children have it by 8 years of age, and it is nearly universal in adults (Shapiro 2016). In the French adult cohort, median FEV1 decline was 13.4 mL per year, greater in women (29.3 mL per year) than in men (2.0 mL per year), and lung function was lower in women and in patients with chronic Pseudomonas aeruginosa infection (Frija-Masson 2017).

Male Infertility

The sperm tail has a structure almost identical to that of respiratory cilia (Shapiro 2016). The 2016 consensus states that infertility occurs in nearly 100% of adult men with PCD, through reduced sperm motility (Shapiro 2016); in a 2022–2023 international survey, 39 of 50 men with PCD who answered (78%) were infertile (Schreck 2024). A 2021 review notes that different dynein heavy chains are present in respiratory cilia and sperm flagella, which may partly explain why mutations affect the airways and fertility differently, and that extremely low sperm counts have been reported in some men with PCD (Jayasena 2021).

Female Subfertility

Women with PCD also have reduced fertility, and the consensus attributes their increased risk of ectopic pregnancy to abnormal transport of the egg through the fallopian tube (Shapiro 2016). In the same survey, 72 of 118 women (61%) were infertile (Schreck 2024).

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5. Diagnosis: nNO, TEM, and Genetic Testing

There is no single "gold standard" diagnostic test for PCD (Lucas 2017). The European Respiratory Society published diagnostic guidelines in 2017 (PubMed PMID: 27836958), developed with a systematic review and GRADE assessment of six facets: clinical features, nasal nitric oxide, high-speed video microscopy, transmission electron microscopy, genotyping and immunofluorescence (Lucas 2017). The American Thoracic Society followed in 2018 with a clinical practice guideline whose panel made recommendations for or against specific tests compared with the reference standard of TEM and/or genetic testing (PubMed PMID: 29905515).

Clinical Suspicion: The PICADAR Tool

The PICADAR score (PubMed PMID: 26917608) estimates the probability of PCD in patients with a persistent wet cough using seven predictive parameters: full-term gestation, neonatal chest symptoms, neonatal intensive care admission, chronic rhinitis, ear symptoms, situs inversus and congenital cardiac defect. It was derived in 641 consecutive referrals with a definitive outcome, of whom 75 (12%) had PCD; at a cut-off of 5 points, sensitivity was 0.90 and specificity 0.75, and the area under the curve was 0.91 internally and 0.87 in external validation (Behan 2016). The ERS guideline suggests using combinations of distinctive symptoms and predictive tools such as PICADAR to identify patients for diagnostic testing (weak recommendation) (Lucas 2017).

Nasal Nitric Oxide (nNO)

Nasal nitric oxide is extremely low in PCD compared with healthy and disease controls, for reasons that are not known (Lucas 2017). The ERS guideline recommends nNO measurement as part of the diagnostic work-up of schoolchildren over 6 years and adults, preferably with a chemiluminescence analyser and a velum-closure technique (strong recommendation), and suggests tidal-breathing measurement in children under 6 (weak recommendation); it adds that patients with a strong clinical history may need further testing even if nNO is normal, and notes that there is no consensus on the cut-off (Lucas 2017). One threshold, 77 nl/min, was developed by Leigh and colleagues (Lucas 2017); the North American consensus reports sensitivity of 98% and specificity above 99% at that cut-off once cystic fibrosis has been ruled out (Shapiro 2016). A 2017 meta-analysis of 12 study populations (1,344 patients, 514 with PCD) found summary sensitivity of 97.6% and specificity of 96.0% in cooperative patients, generally over 5 years old, with high clinical suspicion (Shapiro 2017). nNO can be higher in some genotypes, such as RSPH1 (Knowles 2014).

High-Speed Video Microscopy Analysis (HVMA)

Ciliated cells brushed from the nose or bronchus can be filmed to assess ciliary beat frequency and pattern (Lucas 2017). The ERS guideline recommends high-speed video analysis including beat frequency and pattern as part of the work-up (weak recommendation, low-confidence evidence), recommends against using beat frequency without beat pattern (strong recommendation), and recommends repeating the analysis after air-liquid interface cell culture (strong recommendation). When performed by experienced observers combining frequency and pattern, it reported sensitivity of 0.95–1.00 and specificity of 0.93–0.95. Beat patterns track genotype: cilia with outer dynein arm gene mutations (DNAH5, DNAI1, DNAI2, ARMC4) showed minimal residual movement, while DNAH11 cilia were hyperkinetic (Lucas 2017).

Transmission Electron Microscopy (TEM)

In 1976 Afzelius described four people who produced immotile sperm, three of whom had frequent bronchitis and sinusitis and no measurable mucociliary transport; electron microscopy showed that their cilia lacked dynein arms (Afzelius 1976). The ERS guideline recommends TEM as part of the work-up (strong recommendation) and states that hallmark defects — absent outer dynein arms, combined absence of inner and outer dynein arms, or absent inner dynein arms with microtubular disarrangement — need no further confirmatory testing. In cohorts of more than 50 patients reviewed by the guideline, outer dynein arm defects (26–59%) and combined outer and inner dynein arm defects (6–39%) were the most common findings (Lucas 2017). Some patients with PCD have apparently normal ultrastructure, and the guideline states that TEM should not be used in isolation to exclude the diagnosis (Lucas 2017); DNAH11 mutations are one example (Shapiro 2016).

Genetic Testing

The ERS guideline states that a genetic diagnosis requires non-ambiguous biallelic mutations in autosomal recessive PCD, or hemizygous mutations in the X-linked forms. As with autosomal recessive disorders in general, the probability of PCD is 1 in 4 for any conception where both parents are healthy carriers (Lucas 2017). Gene panels may miss large insertions, deletions and mutations in genes not yet linked to PCD (Shapiro 2016).

The Diagnostic Algorithm

The ERS Task Force agreed that, in a patient with a supportive history, either a hallmark ultrastructural defect on TEM or non-ambiguous biallelic mutations in a PCD gene confirms the diagnosis, and that no other test alone or in combination gives a conclusive positive diagnosis. Very low nNO plus high-speed video findings consistently suggestive of PCD (for example static or circling cilia) on three occasions, or after cell culture, make the diagnosis "highly likely" but not definitive. Its algorithm runs: step 1, nNO plus HVMA (if both are entirely normal, PCD is very unlikely unless suspicion is particularly high); step 2, TEM; step 3, genetics and repeat HVMA with or without cell culture (Lucas 2017). The North American consensus uses a different scheme for people aged 5 and over: two or more major clinical criteria plus at least one of nNO below 77 nl/min on two occasions more than 2 months apart with cystic fibrosis excluded, diagnostic ultrastructure, biallelic mutations in one PCD gene, or persistent diagnostic waveform abnormalities on repeated video microscopy (Shapiro 2016).

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6. Airway Clearance Therapy

Daily airway clearance through chest physiotherapy is described as a cornerstone of long-term PCD care in the 2016 North American consensus, which notes that, unlike in cystic fibrosis, cough clearance is preserved in PCD (Shapiro 2016). A 2026 narrative review describes physiotherapy as standard care but finds the evidence for specific regimens limited, practice varying widely between centres, and recommendations resting largely on expert opinion and extrapolation from cystic fibrosis and non-CF bronchiectasis (Huenaerts 2026).

Goals and Rationale

Airway clearance aims to compensate for the mechanical mucociliary clearance deficit, with the goals of reducing infection risk, preventing disease progression and improving quality of life (Huenaerts 2026).

Positive Expiratory Pressure (PEP) Devices

Positive expiratory pressure, with or without oscillation, is among the common airway clearance methods, along with autogenic and postural drainage, intrapulmonary percussive ventilation and high-frequency chest wall oscillation; comparative studies show no clear superiority of one technique over another (Huenaerts 2026).

Active Cycle of Breathing Technique (ACBT)

The active cycle of breathing technique is another of the common methods listed in the 2026 review, which found no technique clearly superior to the others (Huenaerts 2026).

Nebulized Hypertonic Saline

In a randomized crossover trial in 22 adults with PCD (aged 22–73), twice-daily 7% hypertonic saline for 12 weeks did not improve the primary outcome, the St George's Respiratory Questionnaire total score, compared with 0.9% isotonic saline; one secondary measure (the QoL-B Health Perception scale) improved, adverse events were more frequent but mild with hypertonic saline, and the authors described the sample as small (Paff 2017). The 2026 review rates the evidence for mucolytic therapy such as hypertonic saline as weak or controversial (Huenaerts 2026).

Exercise

The 2016 consensus encourages daily cardiovascular exercise, noting that poor exercise capacity is linked to lower lung function in PCD and that exercise may improve mucus clearance (Shapiro 2016). The 2026 review describes the data on exercise interventions as scarce but suggestive of benefits for ventilatory capacity and quality of life (Huenaerts 2026).

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7. Managing Infections and Complications

People with PCD have recurrent respiratory exacerbations. The 2016 consensus considers acute changes in cough, sputum production, breathing rate or work of breathing likely to be reliable markers of an exacerbation, as shown in non-CF bronchiectasis (Shapiro 2016).

Common Pathogens

The most common airway pathogens in children with PCD are Streptococcus pneumoniae, Haemophilus influenzae and Moraxella catarrhalis; the 2016 consensus describes processing surveillance cultures the same way as cystic fibrosis cultures, including for Pseudomonas aeruginosa and non-tuberculous mycobacteria (NTM) (Shapiro 2016). In one US cohort, mucoid P. aeruginosa (15%) and NTM (10%) were found in patients over 30 (Noone 2004). In the French adult cohort, 21 of 78 patients had chronic P. aeruginosa infection, and their FEV1 was lower (60% vs 75% predicted) (Frija-Masson 2017).

Antibiotic Treatment of Exacerbations

The 2016 consensus recommends antibiotics for acute exacerbations, oral antibiotics for mild ones, with the choice guided by past respiratory cultures. It reports that most physicians use a broad-spectrum oral antibiotic (amoxicillin plus clavulanic acid or an equivalent cephalosporin) in children, that at least 2–3 weeks of oral antibiotics is typical — based on related conditions such as protracted bacterial bronchitis, cystic fibrosis and non-CF bronchiectasis rather than PCD trials — and that more severe exacerbations or those failing oral therapy may need parenteral antibiotics (Shapiro 2016).

Prophylactic Azithromycin

The BESTCILIA trial, a double-blind, placebo-controlled phase 3 trial at six European PCD centres, randomized 90 people aged 7–50 with FEV1 above 40% predicted to azithromycin (250 mg or 500 mg by body weight below or above 40 kg) or placebo three times a week for 6 months. The mean number of respiratory exacerbations was 0.75 with azithromycin and 1.62 with placebo (rate ratio 0.45, 95% CI 0.26–0.78). The trial ended before reaching its planned size because of recruitment difficulties. Loose stools or diarrhoea were more common with azithromycin (23% vs 5%); serious adverse events occurred in 2% and 7% (Kobbernagel 2020). The 2016 consensus states that sputum surveillance for non-tuberculous mycobacteria is indicated during chronic macrolide therapy (Shapiro 2016).

Sinonasal Management

According to the 2016 consensus, there are no randomized, controlled or long-term prospective studies of chronic rhinosinusitis treatment in PCD; nasal saline irrigation is generally encouraged for symptom relief, its effect is likely greater after functional endoscopic sinus surgery, and sinus surgery is often performed and may improve lower respiratory disease in some patients (Shapiro 2016).

Ear and Hearing Management

Recurrent otitis media in PCD can lead to multiple sets of pressure equalization tubes, conductive hearing loss, speech and language delay, and hearing aids (Shapiro 2016).

Bronchiectasis Surveillance and Transplantation

The 2016 consensus suggests spirometry two to four times a year and generally recommends a chest CT at least once after diagnosis to detect bronchiectasis. It notes that lung transplantation can be considered in advanced disease, but that situs anomalies may complicate the surgery (Shapiro 2016). In the French adult cohort, three of 78 patients had severe respiratory failure (Frija-Masson 2017).

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8. Fertility Outcomes and Reproductive Options

The authors of a 2024 international fertility survey wrote that their findings underline the need to address infertility in routine PCD care, including informing people with PCD about their increased risk (Schreck 2024). The survey, within the participatory Living with PCD study, defined infertility as no clinical pregnancy after 12 months of trying or use of medically assisted reproduction for at least one pregnancy; its authors note possible selection bias and reliance on self-report (Schreck 2024).

Male Infertility: Near-Universal but Not Absolute

In that survey, 39 of 50 men (78%) were infertile. Of the infertile men, 28 had tried medically assisted reproduction, and 17 of them (61%) fathered a child with its help (Schreck 2024). The 2021 male-infertility review notes that the exact roles of PCD genes in male fertility, and the treatment options, need further study (Jayasena 2021).

The Genetic Counseling Consideration

PCD is usually autosomal recessive, with a 1 in 4 probability of an affected child from any conception where both parents are healthy carriers (Lucas 2017). The 2016 consensus recommends genetic counselling when genetic test results are obtained (Shapiro 2016). A 2022 analysis found that the most commonly implicated genes differ by ancestry (Hannah 2022).

Female Subfertility: Reduced but Not Eliminated

In the same survey, 72 of 118 women (61%) were infertile. Fertility differed by genotype in the 46 people with genetic data: all five women with a CCDC40 mutation were infertile and all five with DNAH11 mutations were fertile (Schreck 2024).

Of the infertile women, 59 had used medically assisted reproduction, and 41 of them (69%) became pregnant with its help (Schreck 2024).

Pregnancy in PCD

Women with PCD in the survey had a relatively high risk of ectopic pregnancy: 1 in 10 women who became pregnant had at least one, and 7.6% of pregnancies were ectopic (95% CI 4.7–12.2). The authors wrote that women attempting conception should be made aware of this risk and seek early consultation to confirm an intrauterine pregnancy (Schreck 2024). Decisions about fertility treatment and pregnancy care belong with a clinician.

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Key Research Papers

  1. Afzelius BA. "A human syndrome caused by immotile cilia." Science. 1976;193(4250):317–319. — PubMed PMID: 1084576 — Four subjects with immotile sperm; three with frequent bronchitis and sinusitis had no mucociliary transport, and their cilia lacked dynein arms on electron microscopy.
  2. Lucas JS, Barbato A, Collins SA, et al. "European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia." Eur Respir J. 2017;49(1):1601090 — PubMed PMID: 27836958 — GRADE-based ERS guideline covering clinical features, nasal nitric oxide, high-speed video microscopy, TEM, genotyping and immunofluorescence, with a diagnostic algorithm.
  3. Knowles MR, Ostrowski LE, Leigh MW, et al. "Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype." Am J Respir Crit Care Med. 2014;189(6):707–717. — PubMed PMID: 24568568 — Identified RSPH1 as a PCD gene with milder disease, higher nasal NO and a circular ciliary beat pattern.
  4. Leigh MW, Pittman JE, Carson JL, et al. "Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome." Genet Med. 2009;11(7):473–487 — PubMed PMID: 19606528 — Review of ciliary structure, clinical features, laterality defects and the genetics of PCD.
  5. Zariwala MA, Knowles MR, Omran H. "Genetic defects in ciliary structure and function." Annu Rev Physiol. 2007;69:423–450 — PubMed PMID: 17059358 — Review of PCD genetics; reports ultrastructural defects in about 90% of patients and DNAI1/DNAH5 mutations in 38%.
  6. Pifferi M, Bush A, Caramella D, et al. "Agenesis of paranasal sinuses and nasal nitric oxide in primary ciliary dyskinesia." Eur Respir J. 2011;37(3):566–571 — PubMed PMID: 20650983 — Frontal and/or sphenoidal sinus aplasia or hypoplasia in 73% of 41 PCD patients versus 38% of 45 with secondary ciliary dyskinesia. (Corrected entry: the page previously listed a nonexistent "Evaluation of pulmonary disease in primary ciliary dyskinesia," Respir Med 2011;105(4):566–574.)
  7. Noone PG, Leigh MW, Sannuti A, et al. "Primary ciliary dyskinesia: diagnostic and phenotypic features." Am J Respir Crit Care Med. 2004;169(4):459–467 — PubMed PMID: 14656747 — Cohort of 78 people with PCD: chronic rhinitis/sinusitis 100%, recurrent otitis media 95%, neonatal respiratory symptoms 73%, situs inversus 55%.
  8. Shapiro AJ, Davis SD, Leigh MW, et al. "Limitations of nasal nitric oxide testing in primary ciliary dyskinesia." Am J Respir Crit Care Med. 2020;202(3):476–477 — PubMed PMID: 32329626 — Correspondence (no abstract). (Corrected entry: the page previously listed it as "Limitations of nasal nitric oxide for universal screening of primary ciliary dyskinesia," Ann Am Thorac Soc 2020;17(3):376–384, which does not exist.)
  9. Kuehni CE, Frischer T, Strippoli MP, et al. "Factors influencing age at diagnosis of primary ciliary dyskinesia in European children." Eur Respir J. 2010;36(6):1248–1258 — PubMed PMID: 20530032 — Survey of 1,009 patients under 20 from 223 centres: median age at diagnosis 5.3 years, lower with situs inversus (3.5 vs 5.8 years).
  10. Mitchison HM, Valente EM. "Motile and non-motile cilia in human pathology: from function to phenotypes." J Pathol. 2017;241(2):294–309. — PubMed PMID: 27859258 — Review of ciliopathies caused by motile and non-motile cilia dysfunction.
  11. Behan L, Dimitrov BD, Kuehni CE, et al. "PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia." Eur Respir J. 2016;47(4):1103–1112 — PubMed PMID: 26917608 — Derivation and external validation of the seven-parameter PICADAR score (sensitivity 0.90, specificity 0.75 at 5 points).
  12. Frija-Masson J, Bassinet L, Honoré I, et al. "Clinical characteristics, functional respiratory decline and follow-up in adult patients with primary ciliary dyskinesia." Thorax. 2017;72(2):154–160 — PubMed PMID: 27382041 — Two-centre retrospective study of 78 French adults followed a median 8.1 years: FEV1 decline 13.4 mL/year, greater in women; 4% chronic respiratory failure.
  13. Shapiro AJ, Davis SD, Polineni D, et al. "Diagnosis of primary ciliary dyskinesia. An official American Thoracic Society clinical practice guideline." Am J Respir Crit Care Med. 2018;197(12):e24–e39 — PubMed PMID: 29905515 — ATS guideline with recommendations for or against diagnostic tests compared with TEM and/or genetic testing.
  14. Shapiro AJ, Zariwala MA, Ferkol T, et al. "Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review." Pediatr Pulmonol. 2016;51(2):115–132 — PubMed PMID: 26418604 — North American consensus on diagnosis, monitoring and treatment; notes that PCD therapies had not been proven in large clinical trials.
  15. Shapiro AJ, Josephson M, Rosenfeld M, et al. "Accuracy of nasal nitric oxide measurement as a diagnostic test for primary ciliary dyskinesia. A systematic review and meta-analysis." Ann Am Thorac Soc. 2017;14(7):1184–1196 — PubMed PMID: 28481653 — 12 study populations, 1,344 patients: summary sensitivity 97.6%, specificity 96.0%.
  16. Kennedy MP, Omran H, Leigh MW, et al. "Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia." Circulation. 2007;115(22):2814–2821 — PubMed PMID: 17515466 — In 337 patients: situs solitus 46.0%, situs inversus totalis 47.7%, heterotaxy 6.3%.
  17. Kobbernagel HE, Buchvald FF, Haarman EG, et al. "Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia (BESTCILIA): a multicentre, double-blind, randomised, placebo-controlled phase 3 trial." Lancet Respir Med. 2020;8(5):493–505 — PubMed PMID: 32380069 — 90 patients; exacerbation rate ratio 0.45 with azithromycin over 6 months.
  18. Paff T, Daniels JM, Weersink EJ, et al. "A randomised controlled trial on the effect of inhaled hypertonic saline on quality of life in primary ciliary dyskinesia." Eur Respir J. 2017;49(2):1601770 — PubMed PMID: 28232410 — 22 adults; 7% saline did not improve the primary quality-of-life score versus isotonic saline.
  19. Hannah WB, Seifert BA, Truty R, et al. "The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis." Lancet Respir Med. 2022;10(5):459–468 — PubMed PMID: 35051411 — Minimum global prevalence estimated at 1 in 7,554.
  20. Schreck LD, Pedersen ESL, Dexter K, et al. "Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia." Hum Reprod Open. 2024;2024(3):hoae039 — PubMed PMID: 38962571 — Survey: 78% of men and 61% of women infertile; 7.6% of pregnancies ectopic.
  21. Jayasena CN, Sironen A. "Diagnostics and management of male infertility in primary ciliary dyskinesia." Diagnostics (Basel). 2021;11(9):1550 — PubMed PMID: 34573892 — Review of male infertility in PCD.
  22. Huenaerts E, Vreys M, Vermeulen F, et al. "Physiotherapy in primary ciliary dyskinesia — what is the evidence?: a narrative review and personal experience." Pediatr Pulmonol. 2026;61(8):e71790 — PubMed PMID: 42604456 — Airway clearance evidence in PCD: no technique clearly superior; recommendations rest largely on expert opinion.

PubMed Topic Searches

  1. Primary ciliary dyskinesia diagnosis — PubMed
  2. PCD airway clearance therapy — PubMed
  3. Kartagener syndrome situs inversus bronchiectasis — PubMed
  4. Nasal nitric oxide PCD — PubMed
  5. DNAH5 DNAI1 ciliary dyskinesia genetics — PubMed

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Connections

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