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Cardiology310 papers

Inherited mucociliary clearance defect

Last edited: 4/23/2026

Overview

Primary ciliary dyskinesia (PCD) is a rare, inherited disorder characterized by impaired motile ciliary function, leading to recurrent respiratory infections, chronic inflammation, and progressive lung disease 3 13.

Diagnosis

Key Diagnostic Criteria: Recurrent respiratory infections, chronic sinusitis, situs anomalies, and characteristic ciliary dysfunction 3 20 28.

Recommended Tests:

- Nasal nitric oxide (nNO) measurement (low levels suggest PCD) 1. - Transmission electron microscopy (TEM) to assess dynein arm defects 25 49. - Genetic testing for mutations in over 55 known cilia-related genes 8 16 33.

Grading: Diagnosis often requires a combination of clinical criteria, TEM findings, and genetic evidence 25 49.

Management

First-Line Treatments:

- Regular chest physiotherapy to enhance mucociliary clearance 70. - Antibiotics for acute respiratory infections 77.

Adjunctive Treatments:

- Inhaled corticosteroids and bronchodilators for chronic airway inflammation and bronchospasm 4 70. - Sinus surgery to improve drainage and reduce infections 47. - Pulmonary rehabilitation, including high-frequency chest wall oscillation, to support respiratory function 72.

Special Populations

Pediatrics: Early diagnosis and intervention are crucial to mitigate long-term lung damage 67 70.

Pregnancy: Limited data; fertility issues common due to associated male infertility; assisted reproductive technologies may be necessary 6 64.

Comorbidities: Increased risk of situs anomalies and congenital heart disease; careful perioperative management required for surgical interventions 20 44.

Key Recommendations

Utilize nasal nitric oxide (nNO) measurement as a first-line screening tool for PCD, but confirm with TEM and genetic testing 1 25. (Evidence: Moderate)

Implement regular chest physiotherapy and prophylactic antibiotics to manage recurrent respiratory infections 70 77. (Evidence: Moderate)

Consider genetic testing for mutations in cilia-related genes to support diagnosis, especially in cases with inconclusive TEM findings 8 33. (Evidence: Moderate)

Evaluate and manage situs anomalies and congenital heart disease preoperatively in PCD patients to optimize surgical outcomes 20 44. (Evidence: Expert opinion)

References

Showing 100 most recent of 173 indexed papers.

1 Haarman EG, Israëls J, Rutjes NW, Paff T. The Value of Nasal Nitric Oxide Measurement in the Diagnosis of Primary Ciliary Dyskinesia. Pediatric pulmonology 2026. link 2 Gupta P, Chaurasia AK, Gupta SK. Complicated Kartagener Syndrome Presenting as Type II Respiratory Failure: A Case report. The Journal of the Association of Physicians of India 2026. link 3 Harman K, Horani A, Shoemark A. The Diagnosis of Primary Ciliary Dyskinesia: Putting The European Respiratory/American Thoracic Guideline Into Practice. Pediatric pulmonology 2026. link 4 Gardner RA, Ferkol TW, Shapiro AJ. Treatment of Lung Disease in Primary Ciliary Dyskinesia: A Review of Current and Emerging Interventions. Pediatric pulmonology 2026. link 5 Erdem Eralp E, Karadag B. Insights into sinonasal disease in patients with primary ciliary dyskinesia. Expert review of respiratory medicine 2026. link 6 AbdulWahab A, Mohamed R, Hamid A, Alzoubi H, Love DR, Robinson K et al.. Prevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar. Clinical genetics 2026. link 7 Ito M, Nakano A, Arimoto Y, Kondo M, Matsuda Y, Abo M et al.. Clinical characteristics and severity of primary ciliary dyskinesia caused by large homozygous deletion including exons 1-4 of DRC1: A multicenter retrospective cohort study. Respiratory investigation 2026. link 8 Shoemark A, Goutaki M, Kinghorn B, Ardura-Garcia C, Baz-Redón N, Chilvers M et al.. European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia. The European respiratory journal 2025. link 9 Ito M, Morimoto K, Ohashi M, Wakabayashi K, Miyabayashi A, Yamada H et al.. Primary Ciliary Dyskinesia Due to Compound Heterozygous Variants in CFAP221 with Obstructive Azoospermia: Young's Syndrome May Be a Phenotype of Primary Ciliary Dyskinesia. Internal medicine (Tokyo, Japan) 2025. link 10 Zhou W, Chen Q, Wang Y, Guo A, Wu A, Liu X et al.. An electronic medical record retrieval system can be used to identify missed diagnosis in patients with primary ciliary dyskinesia. Journal of internal medicine 2025. link 11 Beaman MM, Yin W, Smith AJ, Sears PR, Leigh MW, Ferkol TW et al.. Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia. American journal of medical genetics. Part A 2025. link 12 Suryadinata R, Martinello P, Bennett-Wood V, Robinson P. Heterozygous cis HYDIN mutations cause primary ciliary dyskinesia. Med (New York, N.Y.) 2025. link 13 Ferkol T. Understanding primary ciliary dyskinesia. Pediatric pulmonology 2025. link 14 Lam YT, Behan L, Dexter K, Dixon L, Kuehni CE, Schreck LD et al.. Patients' research priorities and participation in primary ciliary dyskinesia research. BMJ open respiratory research 2025. link 15 Gardner RA, Ferkol TW, Davis SD, Rosenfeld M, Sagel SD, Dell SD et al.. Therapies Used by Children With Primary Ciliary Dyskinesia: A Natural History Study. Pediatric pulmonology 2025. link 16 Pifferi M, Boner A, Maj D, Cudazzo A, Michelucci A, Donzelli G et al.. Towards a practical tool to identify . Thorax 2025. link 17 Hijikata M, Morimoto K, Ito M, Wakabayashi K, Miyabayashi A, Yamada H et al.. Genetic Variants Supporting the Diagnosis of Primary Ciliary Dyskinesia in Japan. Clinical genetics 2025. link 18 Roostaei G, Khoshnam Rad N, Fakhri B MS, Mozaffari S, Rahimi B, Kazemizadeh H et al.. Primary ciliary dyskinesia and male infertility: Unraveling the genetic and clinical nexus. Andrology 2025. link 19 Kumasaka I, Takushi H, Watanabe T, Ota C. Challenges in postoperative management of a patient with primary ciliary dyskinesia and Joubert syndrome and related disorders with congenital heart disease. BMJ case reports 2025. link 20 Kaspy KR, Dell SD, Davis SD, Ferkol TW, Rosenfeld M, Sagel SD et al.. Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia. Chest 2024. link 21 Abed H, Gogandi H, Almutawwif M, Aloufi A, Tashkandi M, Alqarni A et al.. Dental management of Kartagener syndrome: A case report. Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry 2024. link 22 Fırat M, Mutlu Ş, Yoleri B, Boşnak Güçlü M. Comparison of respiratory functions, muscle strength, and physical activity among children with primary ciliary dyskinesia with and without Kartagener's syndrome and healthy controls. Physiotherapy theory and practice 2024. link 23 Kim S, Li L, Lin FC, Stack T, Lamb MM, Mohammad I et al.. Histologic characterization of primary ciliary dyskinesia chronic rhinosinusitis. International forum of allergy & rhinology 2024. link 24 Ito M, Morimoto K, Ohfuji T, Miyabayashi A, Wakabayashi K, Yamada H et al.. FOXJ1 Variants Causing Primary Ciliary Dyskinesia with Hydrocephalus: A Case Report from Japan. Internal medicine (Tokyo, Japan) 2024. link 25 Chaskes MB, Lopez EM, Kong KA, Ebert CS, Senior BA, Thorp BD et al.. Primary ciliary dyskinesia: An update on contemporary diagnosis. International forum of allergy & rhinology 2024. link 26 Schreck LD, Goutaki M, Jörger P, Dexter K, Manion M, Christin-Maitre S et al.. Fertility care among people with primary ciliary dyskinesia. Pediatric pulmonology 2024. link 27 Elices I, Kulkarni A, Escoubet N, Pontani LL, Prevost AM, Brette R. An electrophysiological and kinematic model of Paramecium, the "swimming neuron". PLoS computational biology 2023. link 28 Baird SM, Wong D, Levi E, Robinson P. Otolaryngological burden of disease in children with primary ciliary dyskinesia in Victoria, Australia. International journal of pediatric otorhinolaryngology 2023. link 29 Hwang BY, Kwon JY, Kim E, Baik J, Kim HJ, Heo Y et al.. The EZ-Blocker® for one-lung ventilation in a patient with Kartagener syndrome and tracheal bronchus -a case report. Korean journal of anesthesiology 2023. link 30 Zawawi F, Shapiro AJ, Dell S, Wolter NE, Marchica CL, Knowles MR et al.. Otolaryngology Manifestations of Primary Ciliary Dyskinesia: A Multicenter Study. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2022. link 31 Fabri L, Shanthikumar S, Tadd K, Morgan L, Schultz A, Robinson P. Fissure adjacent partial lobe atelectasis in primary ciliary dyskinesia. Journal of paediatrics and child health 2022. link 32 Chiyonobu K, Xu Y, Feng G, Saso S, Ogawa S, Ikejiri M et al.. Analysis of the clinical features of Japanese patients with primary ciliary dyskinesia. Auris, nasus, larynx 2022. link 33 Xu Y, Ogawa S, Adachi Y, Sone N, Gotoh S, Ikejiri M et al.. A pediatric case of primary ciliary dyskinesia caused by novel copy number variation in PIH1D3. Auris, nasus, larynx 2022. link 34 Sendon CS, Cowles RA, Worhunsky DJ, Hodson D, Morotti R, Bazzy-Asaad A et al.. Pediatric unilobar resection in primary ciliary dyskinesia. Minerva pediatrics 2022. link 35 Brennan SK, Molter D, Menezes M, Dunsky K, Leonard D, Lieu J et al.. Implementation of a screening tool for primary ciliary dyskinesia (PCD) in a pediatric otolaryngology clinic. International journal of pediatric otorhinolaryngology 2021. link 36 Baz-Redón N, Rovira-Amigo S, Paramonov I, Castillo-Corullón S, Cols Roig M, Antolín M et al.. Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia. Archivos de bronconeumologia 2021. link 37 Yamamoto H, Sugimoto S, Miyoshi K, Otani S, Yamane M, Toyooka S. Lung transplantation for Kartagener syndrome: technical aspects and morphological adaptation of the transplanted lungs. General thoracic and cardiovascular surgery 2021. link 38 Emiralioğlu N, Taşkıran EZ, Koşukcu C, Bilgiç E, Atilla P, Kaya B et al.. Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey. Pediatric pulmonology 2020. link 39 Pereira R, Barbosa T, Alves Â, Santos R, Oliveira J, Sousa M. Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough. Advances in medical sciences 2020. link 40 Aregullin EO, Kaley VR, Vettukattil JJ. Pulmonary arteriovenous malformations leading to hypoxemia in child with primary ciliary dyskinesia. Pediatric pulmonology 2019. link 41 Hammoudeh S, Gadelhak W, Janahi IA. Primary ciliary dyskinesia among Arabs: Where do we go from here?. Paediatric respiratory reviews 2019. link 42 Best S, Shoemark A, Rubbo B, Patel MP, Fassad MR, Dixon M et al.. Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia. Thorax 2019. link 43 Takeuchi K, Kitano M, Kiyotoshi H, Ikegami K, Ogawa S, Ikejiri M et al.. A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia. Auris, nasus, larynx 2018. link 44 Yazicioglu A, Alici IO, Karaoglanoglu N, Yekeler E. Pitfalls and Challenges of Lung Transplant in a Patient With Kartagener Syndrome and Scoliosis. Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation 2018. link 45 Shoemark A, Moya E, Hirst RA, Patel MP, Robson EA, Hayward J et al.. High prevalence of . Thorax 2018. link 46 Kreicher KL, Schopper HK, Naik AN, Hatch JL, Meyer TA. Hearing loss in children with primary ciliary dyskinesia. International journal of pediatric otorhinolaryngology 2018. link 47 Alanin MC, Aanaes K, Høiby N, Pressler T, Skov M, Nielsen KG et al.. Sinus surgery can improve quality of life, lung infections, and lung function in patients with primary ciliary dyskinesia. International forum of allergy & rhinology 2017. link 48 Frija-Masson J, Bassinet L, Honoré I, Dufeu N, Housset B, Coste A et al.. Clinical characteristics, functional respiratory decline and follow-up in adult patients with primary ciliary dyskinesia. Thorax 2017. link 49 Kouis P, Yiallouros PK, Middleton N, Evans JS, Kyriacou K, Papatheodorou SI. Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis. Pediatric research 2017. link 50 Xu X, Gong P, Wen J. Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations. Journal of assisted reproduction and genetics 2017. link 51 Shapiro AJ, Zariwala MA, Ferkol T, Davis SD, Sagel SD, Dell SD et al.. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatric pulmonology 2016. link 52 Lucas JS, Paff T, Goggin P, Haarman E. Diagnostic Methods in Primary Ciliary Dyskinesia. Paediatric respiratory reviews 2016. link 53 Fitzgerald DA, Shapiro AJ. When to suspect primary ciliary dyskinesia in children. Paediatric respiratory reviews 2016. link 54 Jackson CL, Behan L, Collins SA, Goggin PM, Adam EC, Coles JL et al.. Accuracy of diagnostic testing in primary ciliary dyskinesia. The European respiratory journal 2016. link 55 Sui W, Hou X, Che W, Ou M, Sun G, Huang S et al.. CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature. The clinical respiratory journal 2016. link 56 Morgan LC, Birman CS. The impact of Primary Ciliary Dyskinesia on the upper respiratory tract. Paediatric respiratory reviews 2016. link 57 Takeuchi K, Kitano M, Ishinaga H, Kobayashi M, Ogawa S, Nakatani K et al.. Recent advances in primary ciliary dyskinesia. Auris, nasus, larynx 2016. link 58 Horani A, Ferkol TW, Dutcher SK, Brody SL. Genetics and biology of primary ciliary dyskinesia. Paediatric respiratory reviews 2016. link 59 Werner C, Lablans M, Ataian M, Raidt J, Wallmeier J, Große-Onnebrink J et al.. An international registry for primary ciliary dyskinesia. The European respiratory journal 2016. link 60 Cao Y, Shao C, Song Y, Bai C, He L. Clinical analysis of patients with primary ciliary dyskinesia in mainland China. The clinical respiratory journal 2016. link 61 Djakow J, Kramná L, Dušátková L, Uhlík J, Pursiheimo JP, Svobodová T et al.. An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia. Pediatric pulmonology 2016. link 62 Honoré I, Burgel PR. Primary ciliary dyskinesia in adults. Revue des maladies respiratoires 2016. link 63 Polineni D, Davis SD, Dell SD. Treatment recommendations in Primary Ciliary Dyskinesia. Paediatric respiratory reviews 2016. link 64 Montjean D, Courageot J, Altié A, Amar-Hoffet A, Rossin B, Geoffroy-Siraudin C et al.. Normal live birth after vitrified/warmed oocytes intracytoplasmic sperm injection with immotile spermatozoa in a patient with Kartagener's syndrome. Andrologia 2015. link 65 Çetin D, Genç Çetin B, Şentürk T, Şahin Çildağ S, Yılmaz Akdam İ. Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever. Modern rheumatology 2015. link 66 Pifferi M, Bush A, Michelucci A, Di Cicco M, Piras M, Caramella D et al.. Mannose-binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia. Pediatric pulmonology 2015. link 67 Hosie PH, Fitzgerald DA, Jaffe A, Birman CS, Rutland J, Morgan LC. Presentation of primary ciliary dyskinesia in children: 30 years' experience. Journal of paediatrics and child health 2015. link 68 Shapiro AJ, Tolleson-Rinehart S, Zariwala MA, Knowles MR, Leigh MW. The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey. Cardiology in the young 2015. link 69 Lucas JS, Chetcuti P, Copeland F, Hogg C, Kenny T, Moya E et al.. Overcoming challenges in the management of primary ciliary dyskinesia: the UK model. Paediatric respiratory reviews 2014. link 70 Schofield LM, Horobin HE. Growing up with Primary Ciliary Dyskinesia in Bradford, UK: exploring patients experiences as a physiotherapist. Physiotherapy theory and practice 2014. link 71 Funkhouser WK, Niethammer M, Carson JL, Burns KA, Knowles MR, Leigh MW et al.. A new tool improves diagnostic test performance for transmission em evaluation of axonemal dynein arms. Ultrastructural pathology 2014. link 72 Gokdemir Y, Karadag-Saygi E, Erdem E, Bayindir O, Ersu R, Karadag B et al.. Comparison of conventional pulmonary rehabilitation and high-frequency chest wall oscillation in primary ciliary dyskinesia. Pediatric pulmonology 2014. link 73 Boon M, Jorissen M, Proesmans M, De Boeck K. Primary ciliary dyskinesia, an orphan disease. European journal of pediatrics 2013. link 74 Busquets RM, Caballero-Rabasco MA, Velasco M, Lloreta J, García-Algar Ó. Primary ciliary dyskinesia: clinical criteria indicating ultrastructural studies. Archivos de bronconeumologia 2013. link 75 Bukowy-Bieryłło Z, Ziętkiewicz E, Loges NT, Wittmer M, Geremek M, Olbrich H et al.. RPGR mutations might cause reduced orientation of respiratory cilia. Pediatric pulmonology 2013. link 76 Oktem S, Karadag B, Erdem E, Gokdemir Y, Karakoc F, Dagli E et al.. Sleep disordered breathing in patients with primary ciliary dyskinesia. Pediatric pulmonology 2013. link 77 Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ et al.. Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. American journal of human genetics 2013. link 78 Onoufriadis A, Paff T, Antony D, Shoemark A, Micha D, Kuyt B et al.. Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. American journal of human genetics 2013. link 79 Sears PR, Thompson K, Knowles MR, Davis CW. Human airway ciliary dynamics. American journal of physiology. Lung cellular and molecular physiology 2013. link 80 Pifferi M, Bush A, Montemurro F, Pioggia G, Piras M, Tartarisco G et al.. Rapid diagnosis of primary ciliary dyskinesia: cell culture and soft computing analysis. The European respiratory journal 2013. link 81 Geber S, Lemgruber M, Taitson PF, Valle M, Sampaio M. Birth of healthy twins after intracytoplasmic sperm injection using ejaculated immotile spermatozoa from a patient with Kartagener's syndrome. Andrologia 2012. link 82 McLachlan RI, Ishikawa T, Osianlis T, Robinson P, Merriner DJ, Healy D et al.. Normal live birth after testicular sperm extraction and intracytoplasmic sperm injection in variant primary ciliary dyskinesia with completely immotile sperm and structurally abnormal sperm tails. Fertility and sterility 2012. link 83 Shoemark A, Dixon M, Corrin B, Dewar A. Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia. Journal of clinical pathology 2012. link 84 Valerio G, Giallauria F, Montella S, Vaino N, Vigorito C, Mirra V et al.. Cardiopulmonary assessment in primary ciliary dyskinesia. European journal of clinical investigation 2012. link 85 Maglione M, Bush A, Montella S, Mollica C, Manna A, Esposito A et al.. Progression of lung disease in primary ciliary dyskinesia: is spirometry less accurate than CT?. Pediatric pulmonology 2012. link 86 Lucas JS, Adam EC, Goggin PM, Jackson CL, Powles-Glover N, Patel SH et al.. Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD. Human mutation 2012. link 87 Sommer JU, Schäfer K, Omran H, Olbrich H, Wallmeier J, Blum A et al.. ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2011. link 88 Becker-Heck A, Zohn IE, Okabe N, Pollock A, Lenhart KB, Sullivan-Brown J et al.. The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nature genetics 2011. link 89 Marthin JK, Nielsen KG. Choice of nasal nitric oxide technique as first-line test for primary ciliary dyskinesia. The European respiratory journal 2011. link 90 Geremek M, Bruinenberg M, Ziętkiewicz E, Pogorzelski A, Witt M, Wijmenga C. Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genes. Human genetics 2011. link 91 Pifferi M, Bush A, Caramella D, Di Cicco M, Zangani M, Chinellato I et al.. Agenesis of paranasal sinuses and nasal nitric oxide in primary ciliary dyskinesia. The European respiratory journal 2011. link 92 Lee L. Mechanisms of mammalian ciliary motility: Insights from primary ciliary dyskinesia genetics. Gene 2011. link 93 Noll EM, Rieger CH, Hamelmann E, Nüsslein TG. Questionnaire to preselect patients with a high probability of primary ciliary dyskinesia. Klinische Padiatrie 2011. link 94 Papon JF, Coste A, Roudot-Thoraval F, Boucherat M, Roger G, Tamalet A et al.. A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia. The European respiratory journal 2010. link 95 Stannard WA, Chilvers MA, Rutman AR, Williams CD, O'Callaghan C. Diagnostic testing of patients suspected of primary ciliary dyskinesia. American journal of respiratory and critical care medicine 2010. link 96 Ostrowski LE, Yin W, Rogers TD, Busalacchi KB, Chua M, O'Neal WK et al.. Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis. American journal of respiratory cell and molecular biology 2010. link 97 Mantovani G, Pifferi M, Vozzi G. Automated software for analysis of ciliary beat frequency and metachronal wave orientation in primary ciliary dyskinesia. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2010. link 98 Pifferi M, Bush A, Di Cicco M, Pradal U, Ragazzo V, Macchia P et al.. Health-related quality of life and unmet needs in patients with primary ciliary dyskinesia. The European respiratory journal 2010. link 99 O'Callaghan C, Chetcuti P, Moya E. High prevalence of primary ciliary dyskinesia in a British Asian population. Archives of disease in childhood 2010. link 100 Barbato A, Frischer T, Kuehni CE, Snijders D, Azevedo I, Baktai G et al.. Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. The European respiratory journal 2009. link

Original source

[1]
The Value of Nasal Nitric Oxide Measurement in the Diagnosis of Primary Ciliary Dyskinesia. — Haarman EG, Israëls J, Rutjes NW, Paff T Pediatric pulmonology (2026)
[2]
Complicated Kartagener Syndrome Presenting as Type II Respiratory Failure: A Case report. — Gupta P, Chaurasia AK, Gupta SK The Journal of the Association of Physicians of India (2026)
[3]
The Diagnosis of Primary Ciliary Dyskinesia: Putting The European Respiratory/American Thoracic Guideline Into Practice. — Harman K, Horani A, Shoemark A Pediatric pulmonology (2026)
[4]
Treatment of Lung Disease in Primary Ciliary Dyskinesia: A Review of Current and Emerging Interventions. — Gardner RA, Ferkol TW, Shapiro AJ Pediatric pulmonology (2026)
[5]
Insights into sinonasal disease in patients with primary ciliary dyskinesia. — Erdem Eralp E, Karadag B Expert review of respiratory medicine (2026)
[6]
Prevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar. — AbdulWahab A, Mohamed R, Hamid A, Alzoubi H, Love DR, Robinson K et al. Clinical genetics (2026)
[7]
Clinical characteristics and severity of primary ciliary dyskinesia caused by large homozygous deletion including exons 1-4 of DRC1: A multicenter retrospective cohort study. — Ito M, Nakano A, Arimoto Y, Kondo M, Matsuda Y, Abo M et al. Respiratory investigation (2026)
[8]
European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia. — Shoemark A, Goutaki M, Kinghorn B, Ardura-Garcia C, Baz-Redón N, Chilvers M et al. The European respiratory journal (2025)
[9]
Primary Ciliary Dyskinesia Due to Compound Heterozygous Variants in CFAP221 with Obstructive Azoospermia: Young's Syndrome May Be a Phenotype of Primary Ciliary Dyskinesia. — Ito M, Morimoto K, Ohashi M, Wakabayashi K, Miyabayashi A, Yamada H et al. Internal medicine (Tokyo, Japan) (2025)
[10]
An electronic medical record retrieval system can be used to identify missed diagnosis in patients with primary ciliary dyskinesia. — Zhou W, Chen Q, Wang Y, Guo A, Wu A, Liu X et al. Journal of internal medicine (2025)
[11]
Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia. — Beaman MM, Yin W, Smith AJ, Sears PR, Leigh MW, Ferkol TW et al. American journal of medical genetics. Part A (2025)
[12]
Heterozygous cis HYDIN mutations cause primary ciliary dyskinesia. — Suryadinata R, Martinello P, Bennett-Wood V, Robinson P Med (New York, N.Y.) (2025)
[13]
Understanding primary ciliary dyskinesia. — Ferkol T Pediatric pulmonology (2025)
[14]
Patients' research priorities and participation in primary ciliary dyskinesia research. — Lam YT, Behan L, Dexter K, Dixon L, Kuehni CE, Schreck LD et al. BMJ open respiratory research (2025)
[15]
Therapies Used by Children With Primary Ciliary Dyskinesia: A Natural History Study. — Gardner RA, Ferkol TW, Davis SD, Rosenfeld M, Sagel SD, Dell SD et al. Pediatric pulmonology (2025)
[16]
Towards a practical tool to identify — Pifferi M, Boner A, Maj D, Cudazzo A, Michelucci A, Donzelli G et al. Thorax (2025)
[17]
Genetic Variants Supporting the Diagnosis of Primary Ciliary Dyskinesia in Japan. — Hijikata M, Morimoto K, Ito M, Wakabayashi K, Miyabayashi A, Yamada H et al. Clinical genetics (2025)
[18]
Primary ciliary dyskinesia and male infertility: Unraveling the genetic and clinical nexus. — Roostaei G, Khoshnam Rad N, Fakhri B MS, Mozaffari S, Rahimi B, Kazemizadeh H et al. Andrology (2025)
[19]
Challenges in postoperative management of a patient with primary ciliary dyskinesia and Joubert syndrome and related disorders with congenital heart disease. — Kumasaka I, Takushi H, Watanabe T, Ota C BMJ case reports (2025)
[20]
Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia. — Kaspy KR, Dell SD, Davis SD, Ferkol TW, Rosenfeld M, Sagel SD et al. Chest (2024)
[21]
Dental management of Kartagener syndrome: A case report. — Abed H, Gogandi H, Almutawwif M, Aloufi A, Tashkandi M, Alqarni A et al. Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry (2024)
[22]
Comparison of respiratory functions, muscle strength, and physical activity among children with primary ciliary dyskinesia with and without Kartagener's syndrome and healthy controls. — Fırat M, Mutlu Ş, Yoleri B, Boşnak Güçlü M Physiotherapy theory and practice (2024)
[23]
Histologic characterization of primary ciliary dyskinesia chronic rhinosinusitis. — Kim S, Li L, Lin FC, Stack T, Lamb MM, Mohammad I et al. International forum of allergy & rhinology (2024)
[24]
FOXJ1 Variants Causing Primary Ciliary Dyskinesia with Hydrocephalus: A Case Report from Japan. — Ito M, Morimoto K, Ohfuji T, Miyabayashi A, Wakabayashi K, Yamada H et al. Internal medicine (Tokyo, Japan) (2024)
[25]
Primary ciliary dyskinesia: An update on contemporary diagnosis. — Chaskes MB, Lopez EM, Kong KA, Ebert CS, Senior BA, Thorp BD et al. International forum of allergy & rhinology (2024)
[26]
Fertility care among people with primary ciliary dyskinesia. — Schreck LD, Goutaki M, Jörger P, Dexter K, Manion M, Christin-Maitre S et al. Pediatric pulmonology (2024)
[27]
An electrophysiological and kinematic model of Paramecium, the "swimming neuron". — Elices I, Kulkarni A, Escoubet N, Pontani LL, Prevost AM, Brette R PLoS computational biology (2023)
[28]
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