Abstract
Primary ciliary dyskinesia (PCD) is a rare genetic diseases with diverse clinical symptoms. Clinicians should think of PCD in the differential diagnostic process in both children and adults who suffer from recurrent or chronic upper and lower respiratory tract symptoms frequently accompanied by hearing impairment.
The first manifestations of PCD often occur very early in life and might present as an acute respiratory distress syndrome of a newborn or neonatal rhinitis. During the whole life the patients suffer from chronic wet cough and recurrent airway and lung inflammations, which can result in bronchiectasis.
Situs viscerum inversus, other laterality defects and fertility disorders are other common symptoms in PCD. Early diagnosis and complex therapy play a key role in the prognosis of PCD patients, as deterioration of lung functions and lung tissue destruction may occur at an early age in some phenotypes.