International consensus statement on routine blood testing in primary ciliary dyskinesia

doi:10.1183/23120541.01071-2024

. 2025 Jun 23;11(3):01071-2024.

doi: 10.1183/23120541.01071-2024. eCollection 2025 May.

International consensus statement on routine blood testing in primary ciliary dyskinesia

Sarah Altaraihi¹, June K Marthin¹, Pinelopi Anagnostopoulou^{2

3}, Mieke Boon^{4

5}, Siobhan B Carr⁶, Silvia Castillo-Corullón⁷, Eleonora Dehlink⁸, Damien M S Destouches⁹, Jamie Duckers¹⁰, Eric G Haarman¹¹, Bülent Karadag¹², Christina Kavouridou¹³, Michael R Loebinger¹⁴, Bernard Maitre¹⁵, Henryk Mazurek¹⁶, Lucy Morgan¹⁷, Heymut Omran¹⁸, Ugur Ozcelik¹⁹, Daniel Peckam²⁰, Massimo Pifferi²¹, Petr Pohunek²², Tavs Qvist²³, Johanna Raidt¹⁸, Phillipe Reix^{24

25}, Felix C Ringshausen^{26

27}, Phil Robinson²⁸, Evie Robson²⁹, Jobst Röhmel^{30

31

32}, Francesca Santamaria³³, Anne Schlegtendal³⁴, Nicola Ullmann³⁵, Woolf Walker^{36

37}, Panayiotis Yiallouros^{2

3}, Guillaume Thouvenin³⁸, Suzanne Crowley³⁹, Kim G Nielsen^{1

40}

Affiliations

¹ Danish PCD Centre Copenhagen, Paediatric Pulmonary Service, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
² Medical School, University of Cyprus, Nicosia, Cyprus.
³ Pediatric Pulmonology Unit, Hospital "Archbishop Makarios III", Nicosia, Cyprus.
⁴ Department of Pediatrics, Pediatric Pulmonology, University Hospital Leuven, Belgium.
⁵ Department of Development and Regeneration, Woman and Child Unit, KU Leuven, Leuven, Belgium.
⁶ Royal Brompton Hospital and Imperial College London, London, UK.
⁷ Pediatric Pulmonology, Hospital Clinico de Valencia, Valencia, Spain.
⁸ Department of Paediatrics, Division of Paediatric Pulmonology, Allergology and Endocrinology, Medical University of Vienna, Vienna, Austria.
⁹ Association Dyskinésie Ciliaire Primitive, St Etienne, France.
¹⁰ University Hospital Llandough, Cardiff and Vale University Health Board, Cardiff, UK.
¹¹ Department of Pulmonary Medicine, Amsterdam University Medical Centre location AMC, University of Amsterdam, Amsterdam, The Netherlands.
¹² Division of Pediatric Pulmonology, Marmara University, Istanbul, Turkey.
¹³ Queen Silvias Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden.
¹⁴ Royal Brompton Hospital and National Heart and Lung Institute, Imperial College London, London, UK.
¹⁵ Service de Pneumologie, Centre Hospitalier Intercommunal de Créteil, Unité de Pneumologie, GH Mondor, AP-HP, Créteil, France.
¹⁶ Department of Pneumonology and Cystic Fibrosis, National Tuberculosis and Lung Diseases Institute, Rabka Zdrój, Poland.
¹⁷ Macquarie University Hospital, Sydney, Australia.
¹⁸ Department of General Paediatrics, University Children's Hospital Muenster, Muenster, Germany.
¹⁹ Department of Pediatric Pulmonology, Hacettepe University Medical Faculty, Ankara, Turkiye.
²⁰ Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
²¹ Department of Pediatrics, University Hospital of Pisa, Pisa, Italy.
²² Pediatric Pulmonology, Pediatric Department, Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
²³ Danish PCD Centre Copenhagen, Department of Infectious Diseases, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
²⁴ Centre de Référence des Maladies Respiratoires Rares de l'Enfant, Service de Pneumologie Pédiatrique, Hospices Civils de Lyon, Lyon, France.
²⁵ UMR 5558, Equipe EMET, Université Claude Bernard Lyon 1, Villeurbanne, France.
²⁶ Department of Respiratory Medicine and Infectious Diseases, Hannover Medical School, and Biomedical Research in End-Stage and Obstructive Lung Disease Hannover, German Center for Lung Research (DZL), Hannover, Germany.
²⁷ European Reference Network on Rare and Complex Respiratory Diseases, Frankfurt, Germany.
²⁸ Respiratory Medicine, Royal Children's Hospital and University of Melbourne, Melbourne, Australia.
²⁹ North of England PCD Management Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
³⁰ Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
³¹ Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.
³² German Center for Lung Research (DZL), associated partner site, Berlin, Germany.
³³ Department of Translational Medical Sciences, Pediatric Pulmonology Unit, Federico II University, Naples, Italy.
³⁴ Department of Paediatric Pneumology, University Children's Hospital Bochum, Bochum, Germany.
³⁵ Pneumology and Cystic Fibrosis Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
³⁶ Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
³⁷ Clinical and Experimental Sciences, University of Southampton Faculty of Medicine, Southampton, UK.
³⁸ Service de Pneumologie Pédiatrique, Hôpital Trousseau, AP-HP, Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, CRSA, Paris, France.
³⁹ Paediatric Department of Allergy and Lung Diseases, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
⁴⁰ Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.

PMID: 40551794
PMCID: PMC12183740
DOI: 10.1183/23120541.01071-2024

International consensus statement on routine blood testing in primary ciliary dyskinesia

Sarah Altaraihi et al. ERJ Open Res. 2025.

. 2025 Jun 23;11(3):01071-2024.

doi: 10.1183/23120541.01071-2024. eCollection 2025 May.

Authors

Affiliations

¹ Danish PCD Centre Copenhagen, Paediatric Pulmonary Service, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
² Medical School, University of Cyprus, Nicosia, Cyprus.
³ Pediatric Pulmonology Unit, Hospital "Archbishop Makarios III", Nicosia, Cyprus.
⁴ Department of Pediatrics, Pediatric Pulmonology, University Hospital Leuven, Belgium.
⁵ Department of Development and Regeneration, Woman and Child Unit, KU Leuven, Leuven, Belgium.
⁶ Royal Brompton Hospital and Imperial College London, London, UK.
⁷ Pediatric Pulmonology, Hospital Clinico de Valencia, Valencia, Spain.
⁸ Department of Paediatrics, Division of Paediatric Pulmonology, Allergology and Endocrinology, Medical University of Vienna, Vienna, Austria.
⁹ Association Dyskinésie Ciliaire Primitive, St Etienne, France.
¹⁰ University Hospital Llandough, Cardiff and Vale University Health Board, Cardiff, UK.
¹¹ Department of Pulmonary Medicine, Amsterdam University Medical Centre location AMC, University of Amsterdam, Amsterdam, The Netherlands.
¹² Division of Pediatric Pulmonology, Marmara University, Istanbul, Turkey.
¹³ Queen Silvias Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden.
¹⁴ Royal Brompton Hospital and National Heart and Lung Institute, Imperial College London, London, UK.
¹⁵ Service de Pneumologie, Centre Hospitalier Intercommunal de Créteil, Unité de Pneumologie, GH Mondor, AP-HP, Créteil, France.
¹⁶ Department of Pneumonology and Cystic Fibrosis, National Tuberculosis and Lung Diseases Institute, Rabka Zdrój, Poland.
¹⁷ Macquarie University Hospital, Sydney, Australia.
¹⁸ Department of General Paediatrics, University Children's Hospital Muenster, Muenster, Germany.
¹⁹ Department of Pediatric Pulmonology, Hacettepe University Medical Faculty, Ankara, Turkiye.
²⁰ Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
²¹ Department of Pediatrics, University Hospital of Pisa, Pisa, Italy.
²² Pediatric Pulmonology, Pediatric Department, Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
²³ Danish PCD Centre Copenhagen, Department of Infectious Diseases, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
²⁴ Centre de Référence des Maladies Respiratoires Rares de l'Enfant, Service de Pneumologie Pédiatrique, Hospices Civils de Lyon, Lyon, France.
²⁵ UMR 5558, Equipe EMET, Université Claude Bernard Lyon 1, Villeurbanne, France.
²⁶ Department of Respiratory Medicine and Infectious Diseases, Hannover Medical School, and Biomedical Research in End-Stage and Obstructive Lung Disease Hannover, German Center for Lung Research (DZL), Hannover, Germany.
²⁷ European Reference Network on Rare and Complex Respiratory Diseases, Frankfurt, Germany.
²⁸ Respiratory Medicine, Royal Children's Hospital and University of Melbourne, Melbourne, Australia.
²⁹ North of England PCD Management Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
³⁰ Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
³¹ Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.
³² German Center for Lung Research (DZL), associated partner site, Berlin, Germany.
³³ Department of Translational Medical Sciences, Pediatric Pulmonology Unit, Federico II University, Naples, Italy.
³⁴ Department of Paediatric Pneumology, University Children's Hospital Bochum, Bochum, Germany.
³⁵ Pneumology and Cystic Fibrosis Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
³⁶ Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
³⁷ Clinical and Experimental Sciences, University of Southampton Faculty of Medicine, Southampton, UK.
³⁸ Service de Pneumologie Pédiatrique, Hôpital Trousseau, AP-HP, Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, CRSA, Paris, France.
³⁹ Paediatric Department of Allergy and Lung Diseases, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
⁴⁰ Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.

PMID: 40551794
PMCID: PMC12183740
DOI: 10.1183/23120541.01071-2024

Abstract

Background: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by dysfunction of motile cilia. Symptoms include recurrent and chronic airway infections which can lead to deteriorating lung function and inflammatory destructive lung disease in the form of persistent atelectasis and bronchiectasis. Routine blood testing may be used as a tool for disease monitoring and management. However, currently there are no consensus-based guidelines within the field of PCD. BEAT-PCD together with the ERN-LUNG PCD-Clinical Trial Network aimed to develop an international expert consensus statement on which routine blood tests should be conducted in patients with PCD.

Methods: An international panel of 33 PCD experts from 17 countries was established to generate consensus on routine blood testing in PCD. A modified Delphi technique with three e-survey rounds was used to reach consensus, which was defined as ≥80% agreement for each statement. Two patient representatives were included in the consensus process.

Results: The expert panel reached consensus on 51 out of 101 statements (50%) on routine blood testing in children and adults with PCD to be performed at diagnosis, annually and on exacerbation. The statements include biomarkers for inflammation, haemoglobin, iron status, vitamin D, immune function, inhalant allergies, liver and kidney function, and allergic bronchopulmonary aspergillosis.

Conclusions: This is the first international consensus on routine blood testing in PCD. It highlights blood tests that may be relevant to perform at diagnosis, annually and on exacerbation in people with PCD. Further research on the clinical usefulness of routine blood testing in PCD is needed.

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Conflict of interest statement

Conflicts of interest: J. Duckers has received speaker/consultancy fees from Vertex, Chiesi, Pfizer and Insmed. L. Morgan has received fees as an investigator and member of an advisory board for ReCODE therapeutics. H. Omran is an Associate Editor of this journal. P. Pohunek has received payment or honoraria from GlaxoSmithKline, AstraZeneca and Chiesi. F.C. Ringshausen and his institution received research grants from the German Center for Lung Research (DZL) and the German Center for Infection Research (DZIF); in addition, his institution received fees for participation in clinical trials from Insmed Inc., Parion Sciences and the University of Dundee; and personal honoraria for consulting and advisory board participation from Parion Sciences, Boehringer Ingelheim and Insmed Inc. as well as lectures fees from i!DE Werbeagentur GmbH; he is honorary co-chair of the German Bronchiectasis Registry PROGNOSIS, member of the Steering Committee of the European Bronchiectasis Registry EMBARC, member of the European Clinical Trial Network ERN-LUNG PCD-CTN and co-speaker of the Medical Advisory Group of the Patient Advocacy Group “Kartagener Syndrom und Primäre Ciliäre Dyskinesie eV”. K.G. Nielsen has received fees as member of an advisory board for ReCODE therapeutics and his institution received research grants from the Danish Paediatric Lung Foundation; in addition, his institution received fees for participation in clinical trials initiated by Insmed Inc., Parion Sciences and Boehringer Ingelheim; he is a member of ERN-LUNG PCD Core and director of the European Clinical Trial Network ERN-LUNG PCD-CTN. The remaining authors have nothing to disclose.

Figures

**FIGURE 1**
Flowchart of the Delphi process on routine blood testing in primary ciliary dyskinesia (PCD). Consensus was reached on statements with ≥80% agreement. “Rephrased and adjusted statements”: no consensus yet (40–80% agreement), the statements will go to the next survey round, with adjustments, to see if they can reach consensus. “Statements did not go further”: ≤40% agreement. A total of 51 statements out of 101 reached consensus. ^#: throughout the process some statements were combined, new statements were formulated and adjustments were made.

See this image and copyright information in PMC

References

1. Wallmeier J, Nielsen KG, Kuehni CE, et al. Motile ciliopathies. Nat Rev Dis Primers 2020; 6: 77. doi: 10.1038/s41572-020-0209-6 - DOI - PubMed
1. Goutaki M, Meier AB, Halbeisen FS, et al. Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis. Eur Respir J 2016; 48: 1081–1095. doi: 10.1183/13993003.00736-2016 - DOI - PubMed
1. Lucas JS, Davis SD, Omran H, et al. Primary ciliary dyskinesia in the genomics age. Lancet Respir Med 2020; 8: 202–206. doi: 10.1016/S2213-2600(19)30374-1 - DOI - PubMed
1. Nielsen KG, Holgersen MG, Crowley S, et al. Chronic airway disease in primary ciliary dyskinesia – spiced with geno-phenotype associations. Am J Med Genet C Semin Med Genet 2022; 190: 20–35. doi: 10.1002/ajmg.c.31967 - DOI - PMC - PubMed
1. Davis SD, Rosenfeld M, Lee HS, et al. Primary ciliary dyskinesia: longitudinal study of lung disease by ultrastructure defect and genotype. Am J Respir Crit Care Med 2019; 199: 190–198. doi: 10.1164/rccm.201803-0548OC - DOI - PMC - PubMed

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[1] Wallmeier J, Nielsen KG, Kuehni CE, et al. Motile ciliopathies. Nat Rev Dis Primers 2020; 6: 77. doi: 10.1038/s41572-020-0209-6 - DOI - PubMed

[2] Wallmeier J, Nielsen KG, Kuehni CE, et al. Motile ciliopathies. Nat Rev Dis Primers 2020; 6: 77. doi: 10.1038/s41572-020-0209-6 - DOI - PubMed

[3] Goutaki M, Meier AB, Halbeisen FS, et al. Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis. Eur Respir J 2016; 48: 1081–1095. doi: 10.1183/13993003.00736-2016 - DOI - PubMed

[4] Goutaki M, Meier AB, Halbeisen FS, et al. Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis. Eur Respir J 2016; 48: 1081–1095. doi: 10.1183/13993003.00736-2016 - DOI - PubMed

[5] Lucas JS, Davis SD, Omran H, et al. Primary ciliary dyskinesia in the genomics age. Lancet Respir Med 2020; 8: 202–206. doi: 10.1016/S2213-2600(19)30374-1 - DOI - PubMed

[6] Lucas JS, Davis SD, Omran H, et al. Primary ciliary dyskinesia in the genomics age. Lancet Respir Med 2020; 8: 202–206. doi: 10.1016/S2213-2600(19)30374-1 - DOI - PubMed

[7] Nielsen KG, Holgersen MG, Crowley S, et al. Chronic airway disease in primary ciliary dyskinesia – spiced with geno-phenotype associations. Am J Med Genet C Semin Med Genet 2022; 190: 20–35. doi: 10.1002/ajmg.c.31967 - DOI - PMC - PubMed

[8] Nielsen KG, Holgersen MG, Crowley S, et al. Chronic airway disease in primary ciliary dyskinesia – spiced with geno-phenotype associations. Am J Med Genet C Semin Med Genet 2022; 190: 20–35. doi: 10.1002/ajmg.c.31967 - DOI - PMC - PubMed

[9] Davis SD, Rosenfeld M, Lee HS, et al. Primary ciliary dyskinesia: longitudinal study of lung disease by ultrastructure defect and genotype. Am J Respir Crit Care Med 2019; 199: 190–198. doi: 10.1164/rccm.201803-0548OC - DOI - PMC - PubMed

[10] Davis SD, Rosenfeld M, Lee HS, et al. Primary ciliary dyskinesia: longitudinal study of lung disease by ultrastructure defect and genotype. Am J Respir Crit Care Med 2019; 199: 190–198. doi: 10.1164/rccm.201803-0548OC - DOI - PMC - PubMed

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International consensus statement on routine blood testing in primary ciliary dyskinesia

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International consensus statement on routine blood testing in primary ciliary dyskinesia

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