Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis. 2018

Martina Contarini, and Amelia Shoemark, and Jessica Rademacher, and Simon Finch, and Andrea Gramegna, and Michele Gaffuri, and Luca Roncoroni, and Manuela Seia, and Felix C Ringshausen, and Tobias Welte, and Francesco Blasi, and Stefano Aliberti, and James D Chalmers
Department of Pathophysiology and Transplantation, University of Milan, Internal Medicine Department, Respiratory unit and Adult Cystic Fibrosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy.

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.

UI MeSH Term Description Entries

Related Publications

Martina Contarini, and Amelia Shoemark, and Jessica Rademacher, and Simon Finch, and Andrea Gramegna, and Michele Gaffuri, and Luca Roncoroni, and Manuela Seia, and Felix C Ringshausen, and Tobias Welte, and Francesco Blasi, and Stefano Aliberti, and James D Chalmers
January 2016, Pneumonologia i alergologia polska,
Martina Contarini, and Amelia Shoemark, and Jessica Rademacher, and Simon Finch, and Andrea Gramegna, and Michele Gaffuri, and Luca Roncoroni, and Manuela Seia, and Felix C Ringshausen, and Tobias Welte, and Francesco Blasi, and Stefano Aliberti, and James D Chalmers
December 2017, European annals of otorhinolaryngology, head and neck diseases,
Martina Contarini, and Amelia Shoemark, and Jessica Rademacher, and Simon Finch, and Andrea Gramegna, and Michele Gaffuri, and Luca Roncoroni, and Manuela Seia, and Felix C Ringshausen, and Tobias Welte, and Francesco Blasi, and Stefano Aliberti, and James D Chalmers
June 1996, Chest,
Martina Contarini, and Amelia Shoemark, and Jessica Rademacher, and Simon Finch, and Andrea Gramegna, and Michele Gaffuri, and Luca Roncoroni, and Manuela Seia, and Felix C Ringshausen, and Tobias Welte, and Francesco Blasi, and Stefano Aliberti, and James D Chalmers
May 1995, American journal of respiratory and critical care medicine,
Martina Contarini, and Amelia Shoemark, and Jessica Rademacher, and Simon Finch, and Andrea Gramegna, and Michele Gaffuri, and Luca Roncoroni, and Manuela Seia, and Felix C Ringshausen, and Tobias Welte, and Francesco Blasi, and Stefano Aliberti, and James D Chalmers
January 2007, Respiration; international review of thoracic diseases,
Martina Contarini, and Amelia Shoemark, and Jessica Rademacher, and Simon Finch, and Andrea Gramegna, and Michele Gaffuri, and Luca Roncoroni, and Manuela Seia, and Felix C Ringshausen, and Tobias Welte, and Francesco Blasi, and Stefano Aliberti, and James D Chalmers
December 1997, Pneumologie (Stuttgart, Germany),
Martina Contarini, and Amelia Shoemark, and Jessica Rademacher, and Simon Finch, and Andrea Gramegna, and Michele Gaffuri, and Luca Roncoroni, and Manuela Seia, and Felix C Ringshausen, and Tobias Welte, and Francesco Blasi, and Stefano Aliberti, and James D Chalmers
June 2009, Paediatric respiratory reviews,
Martina Contarini, and Amelia Shoemark, and Jessica Rademacher, and Simon Finch, and Andrea Gramegna, and Michele Gaffuri, and Luca Roncoroni, and Manuela Seia, and Felix C Ringshausen, and Tobias Welte, and Francesco Blasi, and Stefano Aliberti, and James D Chalmers
May 2014, American journal of respiratory and critical care medicine,
Martina Contarini, and Amelia Shoemark, and Jessica Rademacher, and Simon Finch, and Andrea Gramegna, and Michele Gaffuri, and Luca Roncoroni, and Manuela Seia, and Felix C Ringshausen, and Tobias Welte, and Francesco Blasi, and Stefano Aliberti, and James D Chalmers
March 2016, Paediatric respiratory reviews,
Martina Contarini, and Amelia Shoemark, and Jessica Rademacher, and Simon Finch, and Andrea Gramegna, and Michele Gaffuri, and Luca Roncoroni, and Manuela Seia, and Felix C Ringshausen, and Tobias Welte, and Francesco Blasi, and Stefano Aliberti, and James D Chalmers
February 2023, Genes,
Copied contents to your clipboard!