Paeds · respiratory-sleep-and-airway
Primary ciliary dyskinesia
Also known as PCD · Immotile cilia syndrome · Kartagener syndrome · Ciliary dyskinesia · Motile ciliopathy
Fellowship guide to primary ciliary dyskinesia: why a genetic defect of motile cilia produces a lifelong triad of chronic wet cough, chronic rhinosinusitis and otitis media, how the same immotile cilia randomise left-right asymmetry to give situs inversus and Kartagener syndrome, the neonatal respiratory distress that is the earliest clue, the diagnostic pathway of nasal nitric oxide, high-speed video microscopy, electron microscopy and genetics, and the multidisciplinary airway-clearance-centred management that preserves lung function.
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Red flags
- Unexplained neonatal respiratory distress in a term infant, especially with situs inversus, is primary ciliary dyskinesia until proven otherwise — it is the earliest and most missed clue
- A daily wet productive cough that has been present since the first weeks of life, together with chronic year-round nasal congestion and recurrent ear disease, is the classic PCD phenotype and must not be dismissed as recurrent viral illness
- Situs inversus with chronic sinopulmonary disease is Kartagener syndrome; roughly half of children with PCD have normal situs, so normal organ position never excludes the diagnosis
- Growing bronchiectasis, isolation of Pseudomonas aeruginosa, or falling lung function signals inadequate airway clearance and demands escalation of physiotherapy and specialist review
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Clinical exam formats
Board mappings
- Primary ciliary dyskinesia
- Primary ciliary dyskinesia: diagnosis and multidisciplinary management
- Chronic wet cough and bronchiectasis: primary ciliary dyskinesia
- Short case: the child with situs inversus and chronic sinopulmonary disease
- Long case: primary ciliary dyskinesia with bronchiectasis
- Primary ciliary dyskinesia and suppurative lung disease
- Primary ciliary dyskinesia: recognition and diagnosis
- Respiratory: the child with chronic wet cough and bronchiectasis
- Pulmonology: primary ciliary dyskinesia
- Patient Care: primary ciliary dyskinesia
- Medical Expert: primary ciliary dyskinesia
Overview & Definition
Primary ciliary dyskinesia is an inherited disorder in which the tiny motile cilia that line the airways, the sinuses and the middle ear fail to beat normally, so mucus and trapped organisms are never cleared. It is usually autosomal recessive, and the failure of clearance produces a lifelong, progressive suppurative airway disease that begins in the newborn period rather than a disease that arrives later in childhood. The examiner wants the candidate to see it as a single genetic fault with consequences in every ciliated organ. [3] [6]
The reason the diagnosis matters is that it is common enough to meet in practice, it is chronically damaging, and it is repeatedly missed for years because each infection looks ordinary on its own. A child with PCD is often labelled with recurrent bronchitis, asthma or glue ear for a decade before the pattern is recognised, and every year of missed clearance costs lung function that does not come back. Recognising the phenotype early is the single most valuable thing a clinician does in this topic. [1] [4]
References11ShowHide
- [1]Lucas JS; Barbato A; Collins SA; Goutaki M; Behan L; Caudri D; et al European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J, 2017.PMID 27836958
- [2]Shapiro AJ; Davis SD; Polineni D; Manion M; Rosenfeld M; Dell SD; et al Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline. Am J Respir Crit Care Med, 2018.PMID 29905515
- [3]Knowles MR; Daniels LA; Davis SD; Zariwala MA; Leigh MW Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med, 2013.PMID 23796196
- [4]Leigh MW; Pittman JE; Carson JL; Ferkol TW; Dell SD; Davis SD; et al Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med, 2009.PMID 19606528
- [5]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. Pediatr Pulmonol, 2016.PMID 26418604
- [6]Lucas JS; Davis SD; Omran H; Shoemark A Primary ciliary dyskinesia in the genomics age. Lancet Respir Med, 2020.PMID 31624012
- [7]Shapiro AJ; Davis SD; Ferkol T; Dell SD; Rosenfeld M; Olivier KN; et al Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Chest, 2014.PMID 24577564
- [8]Noone PG; Leigh MW; Sannuti A; Minnix SL; Carson JL; Hazucha M; et al Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med, 2004.PMID 14656747
- [9]Kobbernagel HE; Buchvald FF; Haarman EG; Casaulta C; Collins SA; Hogg C; et al Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia (BESTCILIA): a multicentre, double-blind, randomised, placebo-controlled phase 3 trial. Lancet Respir Med, 2020.PMID 32380069
- [10]Halbeisen FS; Pedersen ESL; Goutaki M; Spycher BD; Amirav I; Boon M; et al Lung function from school age to adulthood in primary ciliary dyskinesia. Eur Respir J, 2022.PMID 35301251
- [11]Marthin JK; Petersen N; Skovgaard LT; Nielsen KG Lung function in patients with primary ciliary dyskinesia: a cross-sectional and 3-decade longitudinal study. Am J Respir Crit Care Med, 2010.PMID 20167855