Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis

Martina Contarini, Amelia Shoemark (Lead / Corresponding author), Jessica Rademacher, Simon Finch, Andrea Gramegna, Michele Gaffuri, Luca Roncoroni, Manuela Seia, Felix C. Ringshausen, Tobias Welte, Francesco Blasi, Stefano Aliberti (Lead / Corresponding author), James D. Chalmers

Research output: Contribution to journalReview article

2 Citations (Scopus)
64 Downloads (Pure)

Abstract

Bronchiectasis represents the final pathway of several infectious, genetic, immunologic or allergic disorders. Accurate and prompt identification of the underlying cause is a key recommendation of several international guidelines, in order to tailor treatment appropriately. Primary ciliary dyskinesia (PCD) is a genetic cause of bronchiectasis in which failure of motile cilia leads to poor mucociliary clearance. Due to poor ciliary function in other organs, individuals can suffer from chronic rhinosinusitis, otitis media and infertility. This paper explores the current literature describing why, when and how to investigate PCD in adult patients with bronchiectasis. We describe the main PCD diagnostic tests and compare the two international PCD diagnostic guidelines. The expensive multi-test diagnostic approach requiring a high level of expertise and specialist equipment, make the multifaceted PCD diagnostic pathway complex. Therefore, the risk of late or missed diagnosis is high and has clinical and research implications. Defining the number of patients with bronchiectasis due to PCD is complex. To date, few studies outlining the aetiology of adult patients with bronchiectasis conduct screening tests for PCD, but they do differ in their diagnostic approach. Comparison of these studies reveals an estimated PCD prevalence of 1-13% in adults with bronchiectasis and describe patients as younger than their counterparts with moderate impairment of lung function and higher rates of chronic infection with Pseudomonas aeruginosa. Diagnosing PCD has clinical, socioeconomic and psychological implications, which affect patients' life, including the possibility to have a specific and multidisciplinary team approach in a PCD referral centre, as well as a genetic and fertility counselling and special legal aspects in some countries. To date no specific treatments for PCD have been approved, standardized diagnostic protocols for PCD and recent diagnostic guidelines will be helpful to accurately define a population on which planning RCT studies to evaluate efficacy, safety and accuracy of PCD specific treatments.

Original languageEnglish
Article number26
Pages (from-to)29-38
Number of pages10
JournalMultidisciplinary Respiratory Medicine
Volume13
Issue numberSuppl 1
DOIs
Publication statusPublished - 9 Aug 2018

Fingerprint

Kartagener Syndrome
Bronchiectasis
Guidelines
Routine Diagnostic Tests
Mucociliary Clearance
Cilia
Genetic Counseling
Otitis Media
Jurisprudence
Pseudomonas aeruginosa
Infertility

Keywords

  • Adult
  • Aetiology
  • Bronchiectasis
  • Primary ciliary dyskinesia

Cite this

Contarini, Martina ; Shoemark, Amelia ; Rademacher, Jessica ; Finch, Simon ; Gramegna, Andrea ; Gaffuri, Michele ; Roncoroni, Luca ; Seia, Manuela ; Ringshausen, Felix C. ; Welte, Tobias ; Blasi, Francesco ; Aliberti, Stefano ; Chalmers, James D. / Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis. In: Multidisciplinary Respiratory Medicine. 2018 ; Vol. 13, No. Suppl 1. pp. 29-38.
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abstract = "Bronchiectasis represents the final pathway of several infectious, genetic, immunologic or allergic disorders. Accurate and prompt identification of the underlying cause is a key recommendation of several international guidelines, in order to tailor treatment appropriately. Primary ciliary dyskinesia (PCD) is a genetic cause of bronchiectasis in which failure of motile cilia leads to poor mucociliary clearance. Due to poor ciliary function in other organs, individuals can suffer from chronic rhinosinusitis, otitis media and infertility. This paper explores the current literature describing why, when and how to investigate PCD in adult patients with bronchiectasis. We describe the main PCD diagnostic tests and compare the two international PCD diagnostic guidelines. The expensive multi-test diagnostic approach requiring a high level of expertise and specialist equipment, make the multifaceted PCD diagnostic pathway complex. Therefore, the risk of late or missed diagnosis is high and has clinical and research implications. Defining the number of patients with bronchiectasis due to PCD is complex. To date, few studies outlining the aetiology of adult patients with bronchiectasis conduct screening tests for PCD, but they do differ in their diagnostic approach. Comparison of these studies reveals an estimated PCD prevalence of 1-13{\%} in adults with bronchiectasis and describe patients as younger than their counterparts with moderate impairment of lung function and higher rates of chronic infection with Pseudomonas aeruginosa. Diagnosing PCD has clinical, socioeconomic and psychological implications, which affect patients' life, including the possibility to have a specific and multidisciplinary team approach in a PCD referral centre, as well as a genetic and fertility counselling and special legal aspects in some countries. To date no specific treatments for PCD have been approved, standardized diagnostic protocols for PCD and recent diagnostic guidelines will be helpful to accurately define a population on which planning RCT studies to evaluate efficacy, safety and accuracy of PCD specific treatments.",
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Contarini, M, Shoemark, A, Rademacher, J, Finch, S, Gramegna, A, Gaffuri, M, Roncoroni, L, Seia, M, Ringshausen, FC, Welte, T, Blasi, F, Aliberti, S & Chalmers, JD 2018, 'Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis', Multidisciplinary Respiratory Medicine, vol. 13, no. Suppl 1, 26, pp. 29-38. https://doi.org/10.1186/s40248-018-0143-6

Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis. / Contarini, Martina; Shoemark, Amelia (Lead / Corresponding author); Rademacher, Jessica; Finch, Simon; Gramegna, Andrea; Gaffuri, Michele; Roncoroni, Luca; Seia, Manuela; Ringshausen, Felix C.; Welte, Tobias; Blasi, Francesco; Aliberti, Stefano (Lead / Corresponding author); Chalmers, James D.

In: Multidisciplinary Respiratory Medicine, Vol. 13, No. Suppl 1, 26, 09.08.2018, p. 29-38.

Research output: Contribution to journalReview article

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AU - Contarini, Martina

AU - Shoemark, Amelia

AU - Rademacher, Jessica

AU - Finch, Simon

AU - Gramegna, Andrea

AU - Gaffuri, Michele

AU - Roncoroni, Luca

AU - Seia, Manuela

AU - Ringshausen, Felix C.

AU - Welte, Tobias

AU - Blasi, Francesco

AU - Aliberti, Stefano

AU - Chalmers, James D.

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