Primary Ciliary Dyskinesia: A Rare and Often Underdiagnosed Disease

Avani Shah*, Theresa A. Laguna

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease with clinical features of ear, sinus, and pulmonary infections that overlap with common respiratory illnesses of childhood. It is a progressive disorder that has significant influence on quality of life, lung function, and survival. Given the considerable overlap of symptoms between common illnesses and PCD, a high index of suspicion by primary care providers is needed to consider the diagnosis. There is not a single “gold standard” diagnostic test for PCD and multiple diagnostic methods coupled with specialized expertise is often needed to make the diagnosis. Patients with PCD also have comorbidities requiring a multidisciplinary approach for optimal clinical management. It is important for primary care physicians to recognize the PCD clinical phenotype and have a diagnostic framework for these patients.

Original languageEnglish (US)
Pages (from-to)e82-e85
JournalPediatric annals
Issue number2
StatePublished - Feb 2022

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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