When to suspect primary ciliary dyskinesia in children

Dominic A Fitzgerald; Adam J Shapiro

doi:10.1016/j.prrv.2015.11.006

When to suspect primary ciliary dyskinesia in children

Paediatr Respir Rev. 2016 Mar:18:3-7. doi: 10.1016/j.prrv.2015.11.006. Epub 2015 Nov 23.

Authors

Dominic A Fitzgerald¹, Adam J Shapiro²

Affiliations

¹ Department of Respiratory Medicine, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Paediatrics & Child Health, Sydney Medical School, University of Sydney, NSW, Australia. Electronic address: dominic.fitzgerald@health.nsw.gov.au.
² Pediatric Respiratory Medicine, Montreal Children's Hospital, McGill University, 1001 Decarie Blvd - BRC.5016, Montreal, Quebec, Canada, H4A 3J1.

PMID: 26822945
DOI: 10.1016/j.prrv.2015.11.006

Abstract

Primary ciliary dyskinesia [PCD] is an uncommon, autosomal recessively inherited condition that is often overlooked and undertreated in childhood. Amidst the myriad of children with coloured nasal secretions, otitis media and a wet cough, there exists a subset with PCD as the underlying unifying diagnosis. In this paper we have highlighted the varying clinical manifestations of PCD, emphasising different presentations between neonates, toddlers, school aged children and adults.

Keywords: Primary Ciliary Dyskinesia [PCD]; chronic wet cough.; neonatal respiratory distress; persistent rhinosinusitis; situs inversus.

Publication types

Review

MeSH terms

Child
Child, Preschool
Delayed Diagnosis*
Diagnosis, Differential
Humans
Infant
Infant, Newborn
Kartagener Syndrome / diagnosis*