Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

Shapiro, Adam J.; Zariwala, Maimoona A.; Ferkol, Thomas; Davis, Stephanie D.; Sagel, Scott D.; Dell, Sharon D.; Rosenfeld, Margaret; Olivier, Kenneth N.; Milla, Carlos; Daniel, Sam J.; Kimple, Adam J.; Manion, Michele; Knowles, Michael R.; Leigh, Margaret W.

doi:10.1002/ppul.23304

Cited by 343 publications

(538 citation statements)

References 161 publications

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“…There is no clear consensus on the best treatment option for chronic rhinosinusitis in PCD [12,48]. Sinus irrigation is a safe, cheap and normally well tolerated treatment option, but studies are needed to assess its effectiveness in PCD.…”

Section: Upper Airway Managementmentioning

confidence: 99%

“…A recent study found age-dependent changes in bacterial pathogens in the lower respiratory tract, with Haemophilus influenzae and Moraxella catarrhalis being more frequent in children and P. aeruginosa in teenagers and adults [61]. Antibiotic prophylaxis should be considered if repeated courses of antibiotics are required [12,48], but prospective studies on the use of prophylaxis [62] and on different prophylaxis regimes are needed.…”

Section: Lower Airway Managementmentioning

confidence: 99%

“…The recent North American consensus guidelines, conversely, highlighted the poor evidence available on VT insertion and did not advocate against their use in PCD. Instead, they recommend counselling on the likelihood of repeated VT insertions after initial placement and post-operative otorrhoea [12].…”

Section: Upper Airway Managementmentioning

confidence: 99%

“…Most experts recommend prescribing oral antibiotics if there is worsening of respiratory symptoms or deterioration of lung function [44]. Both European and North American consensus statements recommend the following at every patient visit: 1) collection of sputum culture or oropharyngeal cough swabs for infection surveillance and 2) evaluation of lung function to monitor disease progression [12,48]. Choice of antibiotic should be directed by culture results, when available.…”

Section: Lower Airway Managementmentioning

confidence: 99%

“…There are two expert consensus statements on PCD management: the 2009 ERS Task Force Consensus in Children [48] and the 2016 North American PCD Foundation Consensus [12], neither of which are evidence based. Both recommend regular follow-up visits at least every 6 months, conducted in specialist centres with multidisciplinary teams experienced in managing chronic suppurative lung disease.…”

Section: Pcd Managementmentioning

confidence: 99%

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Clinical care for primary ciliary dyskinesia: current challenges and future directions

Rubbo

Lucas

2017

Eur Respir Rev

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Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia, leading to impaired mucociliary clearance. It is estimated that the vast majority of patients with PCD have not been diagnosed as such, providing a major obstacle to delivering appropriate care. Challenges in diagnosing PCD include lack of disease-specific symptoms and absence of a single, "gold standard", diagnostic test. Management of patients is currently not based on high-level evidence because research findings are mostly derived from small observational studies with limited follow-up period. In this review, we provide a critical overview of the available literature on clinical care for PCD patients, including recent advances. We identify barriers to PCD research and make suggestions for overcoming challenges.

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Section: Upper Airway Managementmentioning

confidence: 99%

Section: Lower Airway Managementmentioning

confidence: 99%

Section: Upper Airway Managementmentioning

confidence: 99%

Section: Lower Airway Managementmentioning

confidence: 99%

Section: Pcd Managementmentioning

confidence: 99%

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Clinical care for primary ciliary dyskinesia: current challenges and future directions

Rubbo

Lucas

2017

Eur Respir Rev

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Advances in the Diagnosis and Treatment of Primary Ciliary Dyskinesia

Dunsky

Menezes

Ferkol

2021

JAMA Otolaryngol Head Neck Surg

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IMPORTANCE Primary ciliary dyskinesia (PCD) is a rare, inherited condition involving motile cilia that line the upper and lower respiratory tracts, leading to chronic infections of the paranasal sinuses, middle ear, and bronchi that begin during infancy. Unfortunately, despite its early presentation, PCD is often recognized late.OBSERVATIONS People with PCD have diverse clinical manifestations, including chronic upper and lower respiratory tract disease, laterality defects, and subfertility. Through efforts of multinational clinical collaboratives, 4 cardinal features have been described that identify people who likely have PCD: unexplained neonatal respiratory distress, left-right laterality defects, daily wet cough, and nonseasonal rhinosinusitis beginning before 6 months of age. Recent advances in the understanding of the genetics and pathogenesis of the disease have led to a revolution in the approach to screening and diagnostic testing. Moreover, PCD has a broad clinical spectrum, and genotype-phenotype associations are beginning to be recognized. CONCLUSIONS AND RELEVANCEA high index of suspicion remains critical in diagnosing PCD.Children who have at least 2 of the major clinical features should be considered for further evaluation. Nevertheless, while newer tools have improved diagnostic capabilities, there is no single test that will diagnose every person with the disease. In people suspected of having PCD, nasal nitric oxide measurement is a useful screen, followed by diagnostic genetic testing and if negative, ciliary ultrastructural analysis. Despite otolaryngologic manifestations being common in infancy and persisting into adulthood, they have been understudied. Indeed, there are few randomized clinical trials examining the medicosurgical approaches to respiratory disease.

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Chronic airway disease in primary ciliary dyskinesia—spiced with geno–phenotype associations

Nielsen

Holgersen

Crowley

et al. 2022

American J of Med Genetics Pt C

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Primary ciliary dyskinesia (PCD) can be defined as a multiorgan ciliopathy with a dominant element of chronic airway disease affecting the nose, sinuses, middle ear, and in particular, the lower airways. Although most patients with PCD are diagnosed during preschool years, it is obvious that the chronic lung disease starts its course already from birth. The many faces of the clinical picture change, as does lung function, structural lung damage, the burden of infection, and of treatment throughout life. A markedly severe neutrophil inflammation in the respiratory tract seems pervasive and is only to a minimal extent ameliorated by a treatment strategy, which is predominantly aimed at bacterial infections. An ever-increasing understanding of the different aspects, their interrelationships, and possible different age courses conditioned by the underlying genotype is the focus of much attention. The future is likely to offer personalized medicine in the form of mRNA therapy, but to that end, it is of utmost importance that all patients with PCD be carefully characterized and given a genetic diagnosis. In this narrative review, we have concentrated on lower airways and summarized the current understanding of the chronic airway disease in this motile ciliopathy. In addition, we highlight the challenges, gaps, and opportunities in PCD lung disease research.

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Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

Cited by 343 publications

References 161 publications

Clinical care for primary ciliary dyskinesia: current challenges and future directions

Clinical care for primary ciliary dyskinesia: current challenges and future directions

Advances in the Diagnosis and Treatment of Primary Ciliary Dyskinesia

Chronic airway disease in primary ciliary dyskinesia—spiced with geno–phenotype associations

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