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.