Cilia are evolutionarily conserved structures that play a role in diverse cell types. Motile cilia are involved in the most prominent ciliopathy called primary ciliary dyskinesia (PCD), which combines oto-sino-pulmonary symptoms (impaired mucociliary clearance that is important innate defense mechanism), male infertility and in nearly 50% cases situs inversus. Disease is usually inherited as autosomal recessive disorder, concerning mainly outer and/or inner dynein arms of cilia. Diagnosis of PCD requires the presence of characteristic clinical phenotype and confirmation the diagnosis by either identification of specific defect in electron microscopy or other evidence of abnormal ciliary function. The diagnosis of PCD may be delayed, missed or made incorrectly. The first ERS consensus statement which formulates recommendations regarding diagnostic as well as therapeutic approaches to children with PCD, is a very helpful tool in the management of this patients. We present our own experience with three children with PCD diagnosed in our Department.
Conclusion: in children with clinical symptoms suggesting PCD, even with negative screening tests, the estimation of specific cilia defect in electron microscopy is indicated.