Faculty, Staff and Student Publications

Language

English

Publication Date

1-1-2026

Journal

The Open Respiratory Medicine Journal

DOI

10.2174/0118743064429529260119050836

PMID

41987841

PMCID

PMC13077598

PubMedCentral® Posted Date

2-2-2026

PubMedCentral® Full Text Version

Post-print

Abstract

Introduction: As a rare genetic disorder defined by defective ciliary motility, Primary Ciliary Dyskinesia (PCD) leads to chronic respiratory complications. A founder variant in the RSPH4A [c.921+3_921+6delAAGT] gene, common in Puerto Rico, impairs ciliary function and contributes to progressive lung disease. Today, the clinical value of ventilation/perfusion (V/Q) scans in PCD has not been thoroughly investigated as well as pulmonary function tests (PFTs) and chest imaging. To explore the role and clinical utility of V/Q scans in PCD.

Methods: Retrospective evaluation of pulmonary function tests, chest imaging, and Tc-99m DTPA ventilation and Tc-99m MAA perfusion scans in ten patients with genetically confirmed RSPH4A -associated PCD.

Results: Regional lung dysfunction was present in V/Q scans of patients with PCD. Age-related FEV 1 decline and severity of bronchiectasis on chest imaging were depicted in V/Q scans.

Discussion: These findings suggest that V/Q scans can provide additional functional and physiological information beyond that obtained from CT scans in patients with PCD. Furthermore, future longitudinal studies are needed to confirm their value for monitoring disease progression and guiding clinical care in PCD.

Conclusion: V/Q scans may identify functional abnormalities in PCD and complement standard imaging and pulmonary function tests. These scans may serve as valuable tools for monitoring disease progression and informing clinical decision-making.

Keywords

Ciliary dyskinesia, V/Q scan, RSPH4A, Lung disease, Bronchiectasis, Chest CT imaging

Published Open-Access

yes

Download

Share

COinS
 
 

To view the content in your browser, please download Adobe Reader or, alternately,
you may Download the file to your hard drive.

NOTE: The latest versions of Adobe Reader do not support viewing PDF files within Firefox on Mac OS and if you are using a modern (Intel) Mac, there is no official plugin for viewing PDF files within the browser window.