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Paeds Casesrespiratory-sleep-and-airway

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.

structured clinical encounter2 min readVerification in progress

Target exams

RACP General PaediatricsRACP DCEMRCPCH ClinicalRCPSC Pediatrics
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Study tools

Target exams

RACP General PaediatricsRACP DCEMRCPCH ClinicalRCPSC Pediatrics
Prompt
A 4-year-old girl has a daily wet cough present since the first weeks of life, unexplained term neonatal respiratory distress, chronic year-round rhinorrhoea and recurrent glue ear with two sets of grommets, and an incidental chest radiograph shows dextrocardia. You are the paediatric registrar working through the diagnosis, exclusion of cystic fibrosis, the diagnostic pathway, and the long-term multidisciplinary management.

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]

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References5ShowHide
  1. [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. [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. [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
  4. [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
  5. [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
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