Abstract
Primary ciliary dyskinesia is a rare and under-diagnosed genetic disorder. Recurrent or chronic upper and lower respiratory tract infections are main clinical symptoms together with fertility disorders.
It is challenging to diagnose the disease and the recommended diagnostic procedures changed significantly over the last few years. Improper or absent management of the disease may cause hearing loss, development of bronchiectasis and subsequent irreversible lung parenchyma alterations with the risk of respiratory failure in young adulthood.
This reviews aims to present new knowledge in the field of ethiopathogenesis and diagnostics of the disorder. We also describe the most frequent clinical symptoms emphasizing the use of the information in clinical practice.
We also mention basic epidemiology, therapy and prognosis information known to date.