Primary ciliary dyskinesia · review, diagnostics and therapy

Primary ciliary dyskinesia (pcD) is a rare inherited autosomal-recessive condition characterized by chronic bronchitis, recurrent pneumonia, bronchiectasis, recurrent otitis and sinusitis. Half of the pcD patients additionally develop a situs inversus viscerum, which is also referred to as Kartagener's syndrome. High frequency video analysis of ciliary motility, transmission electron microscopy, immunofluorescence imaging and genetic analysis are important diagnostic methods. Exhaled nasal nitric oxide (NO) and examination of the ciliary beat pattern by phase contrast microscopy are screening procedures. Basic principles of therapy are physiotherapy and antibiotic treatment of exacerbations. Topical steroids, β-agonists, acetylcysteine, rhDNAse and phosphodiesterase-4 inhibitors are also sometimes used. In rare conditions surgical interventions are necessary. © Springer-Verlag 2012.