Abstract
Primary ciliary dyskinesia (PCD) is a rare genetic disease caused by a dysfunction of motile cilia. The role of motile cilia in respiratory system is to mechanically move the mucus in oral direction providing the airway clearance.
Impaired function of these structures results in mucus stagnation and recurrent upper and lower respiratory tract infections. PCD is genetically heterogeneous disease (mutations in at least 50 genes have been identified so far) making the clinical picture and level of severity very variable.
Clinical symptoms may manifest as early as in newborns, however most of the patients are diagnosed only later in their childhood or even as adults. The factors contributing to the under-diagnosis of PCD are lack of awareness among both the lay public and the health care professionals, genotype and phenotype variability of the disease and complexity of the diagnostic process.
Confirmation of the definitive diagnosis is crucial for the initiation of appropriate therapy, reduction of patients' stress and improvement of the overall prognosis of PCD patients.