Paeds Cases · respiratory-sleep-and-airway
Primary ciliary dyskinesia — structured clinical encounter
Structured encounter testing the approach to a preschooler with a lifelong wet cough, chronic ear and nasal disease and situs inversus: recognition of primary ciliary dyskinesia, exclusion of cystic fibrosis, the specialist diagnostic pathway, and the multidisciplinary airway-clearance-centred management including infection control and azithromycin prophylaxis.
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Station brief (candidate)
You are the paediatric registrar in a respiratory clinic. A 4-year-old girl is referred with a wet cough that has been present on most days since she was a few weeks old. She had unexplained respiratory distress as a term newborn, has a constantly runny nose, and has had recurrent glue ear needing two sets of grommets. A chest radiograph shows the heart on the right. The team asks you to establish the diagnosis, exclude the key alternative, plan the diagnostic pathway, and outline long-term management. You have 12 minutes with the team and 5 minutes for examiner discussion. [4] [1]
References5ShowHide
- [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
- [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