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Ventilation-perfusion Scan: A Functional Imaging Approach to Regional Lung Disease in Primary Ciliary Dyskinesia
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Gabriel Rosario-Ortiz1
Marcos J. Ramos-Benitez1
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Ricardo A. Mosquera2
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Wilfredo De Jesús-Rojas1
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Authors Info & Affiliations
Abstract
Background
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+6del] 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.
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.
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.