Paeds Vivas · respiratory-sleep-and-airway
Primary ciliary dyskinesia — branching viva
Branching viva from the definition and classification of primary ciliary dyskinesia, through the diagnostic pathway and cystic fibrosis exclusion, the pathophysiology of failed clearance and laterality, the multidisciplinary management with airway clearance and azithromycin, and the high-stakes heterotaxy and neonatal scenarios.
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Study tools
Target exams
RACP General PaediatricsRACP DCEMRCPCH ClinicalRCPSC Pediatrics
Prompt
You are the paediatric registrar in a respiratory clinic. The consultant asks you to talk through four children: a 4-year-old with a daily wet cough since infancy and dextrocardia, a term neonate with unexplained respiratory distress and situs inversus, an 8-year-old with confirmed PCD who has just grown Pseudomonas, and a child with situs ambiguus found during a PCD workup.
Station opening
Examiner: "Define primary ciliary dyskinesia and outline how you would classify it." [4]
Strong candidate (must-hit)
- Defines PCD as an inherited, usually autosomal recessive, defect of motile cilia that fails mucociliary clearance across the airways, sinuses and middle ear; classifies it by ciliary ultrastructural defect (outer dynein arm defect commonest, central apparatus and radial spoke defects that may have normal electron microscopy) and by situs (about half normal, about half situs inversus, a small heterotaxy group); and names Kartagener syndrome as situs inversus with chronic sinusitis and bronchiectasis, noting it is a subset of PCD. [4] [1]
Weak candidate
- "It is Kartagener syndrome, which is when the organs are the wrong way round." [4]
References6ShowHide
- [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
- [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
- [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
- [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