[en] Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects motile cilia, leading to chronic respiratory issues. Diagnosing PCD remains difficult due to the lack of a definitive test, requiring a combination of clinical evaluation and various diagnostic tools such as genetic analysis, nasal nitric oxide measurement, and high-speed video microscopy (DHSV). However, DHSV is not yet recognized as a standalone diagnostic method due to the lack of standardized protocols and reliable reference values.
This thesis explored multiple aspects of PCD diagnosis and management. First, it examined diagnostic approaches, treatment strategies, and the impact of multidisciplinary care on patient outcomes. Second, it assessed whether local anesthetics used in ENT procedures could alter ciliary function and affect DHSV accuracy. Third, it investigated whether ciliary sampling under general anesthesia could provide reliable diagnostic results. Lastly, it analyzed ciliary function in chronic rhinosinusitis with nasal polyps (CRSwNP) patients, as PCD patients frequently develop nasal polyps.
The study emphasizes the need for standardized DHSV protocols to establish it as a reliable diagnostic tool for PCD. By evaluating different sample collection methods, it aims to improve PCD diagnosis and enhance patient care.
