Diagnostics of primary ciliary dyskinesia


Authors: P. Šimůnková 1,2;  J. Uhlík 2;  T. Svobodová 1;  J. Djakow 3;  P. Pohunek 1
Authors‘ workplace: Pediatrická klinika 2. LF UK a FN Motol, Praha přednosta prof. MUDr. J. Lebl, CSc. 1;  Ústav histologie a embryologie 2. LF UK, Praha přednosta MUDr. J. Uhlík, Ph. D. 2;  Oddělení chronické resuscitační a intenzivní péče pro děti, Nemocnice Hořovice primář MUDr. D. Blažek 3
Published in: Čes-slov Pediat 2016; 71 (2): 104-110.
Category: Review

Overview

Examination technique in the diagnosis of primary ciliary dyskinesia is not entirely uniform throughout the world. A process designed and used in FNM involves a thorough patient history including evaluation of clinical index, cilia examination using high-speed videomicroscopy, nasal NO, ciliary ultrastructural examination by electron microscopy, and possibly genetic testing. Every single step of the examination process has its informative value, however, must always be evaluated in the context of the results of other tests.

Key words:
primary ciliary dyskinesia, clinical index, high-speed videomicroscopy, electron microscopy


Sources

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Labels
Neonatology Paediatrics General practitioner for children and adolescents
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