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Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children.

Journal article
Authors A Barbato
T Frischer
C E Kuehni
D Snijders
I Azevedo
G Baktai
L Bartoloni
E Eber
A Escribano
E Haarman
Bill Hesselmar
C Hogg
M Jorissen
J Lucas
K G Nielsen
C O'Callaghan
H Omran
P Pohunek
M-P F Strippoli
A Bush
Published in The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology
Volume 34
Issue 6
Pages 1264-76
ISSN 0903-1936
Publication year 2009
Published at Institute of Clinical Sciences
Pages 1264-76
Language en
Keywords Adult, Child, Clinical Trials as Topic, Female, Humans, Kartagener Syndrome, diagnosis, epidemiology, genetics, therapy, Male, Microscopy, Electron, Transmission, methods, Phenotype, Pulmonary Medicine, methods, Respiratory System, microbiology, Sperm Motility, Treatment Outcome
Subject categories Dermatology and Venereal Diseases, Children


Primary ciliary dyskinesia (PCD) is associated with abnormal ciliary structure and function, which results in retention of mucus and bacteria in the respiratory tract, leading to chronic oto-sino-pulmonary disease, situs abnormalities and abnormal sperm motility. The diagnosis of PCD requires the presence of the characteristic clinical phenotype and either specific ultrastructural ciliary defects identified by transmission electron microscopy or evidence of abnormal ciliary function. Although the management of children affected with PCD remains uncertain and evidence is limited, it remains important to follow-up these patients with an adequate and shared care system in order to prevent future lung damage. This European Respiratory Society consensus statement on the management of children with PCD formulates recommendations regarding diagnostic and therapeutic approaches in order to permit a more accurate approach in these patients. Large well-designed randomised controlled trials, with clear description of patients, are required in order to improve these recommendations on diagnostic and treatment approaches in this disease.

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