Primäre ziliare Dyskinesie

Primary ciliary dyskinesia (PCD) is an autosomal recessive disease characterized by abnormal ciliary motion and impaired mucociliary clearance. The prevalence of PCD is approximately 1:20,000 live births. Since cilia are common in many organs of the body, there is a wide variety of clinical manifestations in patients with PCD. Due to an extensive genetic heterogeneity the course of the disease varies largely, but with increasing age, the clinical symptoms are dominated by repeated respiratory infections and ultimately respiratory insufficiency. In the presence of situs inversus, which is observed in 50% of affected individuals, the diagnosis is easy, In cases of doubt, analyses of the kinetics and infrastructure of the cilia are necessary. The treatment of PCD is symptomatic. With optimal medical and physiotherapeutic management, the prognosis quoad vitam is good and life expectancy is nearly normal.