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Updated: May 29, 2025

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Olfactory Dysfunction in Primary Ciliary Dyskinesia.

Zainab Farzal1, Kelli M Sullivan2, Maimoona A Zariwala2,3

  • 1Department of Otolaryngology-Head and Neck Surgery University of Texas Southwestern Medical Center Dallas Texas USA.

OTO Open
|February 3, 2025
PubMed
Summary
This summary is machine-generated.

Individuals with primary ciliary dyskinesia (PCD) experience significant olfactory dysfunction, with smell identification declining with age. This study highlights a higher prevalence and degree of smell loss in PCD patients compared to controls.

Keywords:
chronic rhinosinusitismotility disorderprimary ciliary dyskinesia

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Area of Science:

  • Otolaryngology
  • Genetics
  • Pulmonology

Background:

  • Primary ciliary dyskinesia (PCD) is a genetic disorder affecting cilia function.
  • Olfactory dysfunction is frequently reported in PCD but remains poorly documented.
  • Understanding smell deficits in PCD is crucial for comprehensive patient care.

Purpose of the Study:

  • To characterize the prevalence and severity of olfactory dysfunction in individuals with PCD.
  • To compare olfactory function in PCD patients to age- and sex-matched controls.
  • To investigate potential associations between specific PCD genes and olfactory impairment.

Main Methods:

  • A prospective cohort study was conducted at a tertiary referral center.
  • The University of Pennsylvania Smell Identification Test (UPSIT) was administered to 29 individuals with PCD.
  • PCD participants were compared to 2170 age- and sex-matched controls, stratified into three age groups.

Main Results:

  • Only 27.6% of PCD patients had normal smell identification scores (normosmia).
  • PCD patients across all age groups showed significantly lower UPSIT scores than controls (P < .0001).
  • Olfactory dysfunction worsened with age in PCD patients, ranging from mild to severe hyposmia.

Conclusions:

  • Individuals with PCD exhibit a substantially higher prevalence and degree of olfactory dysfunction compared to controls.
  • This study is the first to report an age-related decline in olfactory function in PCD patients.
  • The CCDC39 gene, associated with inner dynein arm/microtubule disorientation, was linked to worse olfactory dysfunction.