#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

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

1. Brower KS, Del Vecchio MT, Aronoff SC. The etiologies of non-CF bronchiectasis in childhood: a systematic review of 989 subjects. BMC Pediatrics 2014; 14 (4). doi: 10.1186/s12887-014-0299-y.

2. Hosie PH, Fitzgerald DA, Jaffe A, et al. Presentation of primary ciliary dyskinesia in children: 30 years‘ experience. J Paediatr Child Health 2015; 51 (7): 722–726.

3. Mullowney T, Manson D, Kim R, et al. Primary ciliary dyskinesia and neonatal respiratory distress. Pediatrics 2014;134 (6): 1160–1166.

4. Kennedy MP, Omran H, Leigh, et al. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation 2007; 115: 2814–2821.

5. Djakow J, Svobodová T, Pohunek P. Primární ciliární dyskineze. Pediatr praxi 2013; 14 (6): 368–371.

6. Humphries S. A physical explanation of the temperature dependence of physiological processes mediated by cilia and flagella. Proceedings of the National Academy of Sciences 2013; 110 (36): 14693–14698.

7. Corbelli R. Nasal nitric oxide measurements to screen children for primary ciliary dyskinesia. Chest 2004; 126 (4): 1054–1059.

8. Collins SA, Gove K, Walker W, Lucas JSA. Nasal nitric oxide screening for primary ciliary dyskinesia: systematic review and meta-analysis. Eur Respir J 2014; 44 (6): 1589–1599.

9. Papon JF, Coste A, Roudot-Thoraval F, et al. A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia. Eur Respir J 2010; 35 (5): 1057–1063.

Labels
Neonatology Paediatrics General practitioner for children and adolescents
Login
Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.

Login

Don‘t have an account?  Create new account

#ADS_BOTTOM_SCRIPTS#