Pediatr. praxi. 2013;14(6):368-371

Primary ciliary dyskinesia

MUDr.Jana Djakow, MUDr.Tamara Svobodová, prof.MUDr.Petr Pohunek, CSc.
Pediatrická klinika 2. LF UK a FN Motol, Praha

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.

Keywords: primary ciliary dyskinesia, high speed video microscopy, transmission electron microscopy, diagnostics and management

Published: December 1, 2013  Show citation

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Djakow J, Svobodová T, Pohunek P. Primary ciliary dyskinesia. Pediatr. praxi. 2013;14(6):368-371.
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