caa a22 4500 475786440 CHVBK 20180406123659.0 cr unu---uuuuu 170329e20000101xx s 000 0 eng 10.1007/PL00013813 doi (NATIONALLICENCE)springer-10.1007/PL00013813 Diagnostic approach to primary ciliary dyskinesia: a review [Elektronische Daten] [D. Holzmann, P. M. Ott, H. Felix] Primary ciliary dyskinesia (PCD) is a heterogeneous disease with impaired mucociliary transport leading to respiratory disorders, hearing impairment and male infertility. PCD can be diagnosed by clinical features together with functional and structural analysis of the cilia. To prevent bronchiectasis with a marked reduction in quality of life, early diagnosis is essential. The rarity of PCD and the costs of ultrastructural analysis of cilia require a rational diagnostic concept. We therefore reviewed the literature and compared clinical manifestations as well as functional and structural analyses of the cilia in 28 patients (23 children, 5 adults) investigated between 1990 and 1998. All were thoroughly examined for other possible diseases before biopsy, and ten patients (35.7%; eight children, two adults) were diagnosed as having PCD. From the literature review and our findings we conclude that ciliary investigation is indicated (a) in patients who remain suspected of having PCD despite thorough clinical examination and exclusion of other disorders such as cystic fibrosis, allergy, immunologic disorders and α1-antitrypsin deficiency; (b) in patients with situs inversus suffering from chronic and/or recurrent airway infections; and (c) in patients with neonatal respiratory distress syndrome of "unknown” cause (i.e. after exclusion of hyaline membrane disease, aspiration syndromes, neonatal pneumonia, and pneumothorax as well as cardiovascular and metabolic diseases). Conclusion The combination of extensive clinical examination with functional and ultrastructural analysis of the cilia results in a high degree of accuracy in diagnosing PCD. Springer-Verlag Berlin Heidelberg, 2000 Key words Ciliary dyskinesia nationallicence Respiratory tract infections nationallicence Diagnostics nationallicence Ciliary ultrastructure nationallicence Ciliary movement nationallicence Holzmann D. Klinik und Poliklinik für Otorhinolaryngologie, Hals- und Gesichtschirurgie, Universitätsspital Zürich, Frauenklinikstr. 24, 8091 Zürich, Switzerland e-mail: holzmann@orl.usz.ch Tel.: +41-1-2555860; Fax: +41-1-2554556, CH aut Ott P. M. Klinik und Poliklinik für Otorhinolaryngologie, Hals- und Gesichtschirurgie, Universitätsspital Zürich, Frauenklinikstr. 24, 8091 Zürich, Switzerland e-mail: holzmann@orl.usz.ch Tel.: +41-1-2555860; Fax: +41-1-2554556, CH aut Felix H. Klinik und Poliklinik für Otorhinolaryngologie, Hals- und Gesichtschirurgie, Universitätsspital Zürich, Frauenklinikstr. 24, 8091 Zürich, Switzerland e-mail: holzmann@orl.usz.ch Tel.: +41-1-2555860; Fax: +41-1-2554556, CH aut https://doi.org/10.1007/PL00013813 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00013813 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Holzmann D. Klinik und Poliklinik für Otorhinolaryngologie, Hals- und Gesichtschirurgie, Universitätsspital Zürich, Frauenklinikstr. 24, 8091 Zürich, Switzerland e-mail: holzmann@orl.usz.ch Tel.: +41-1-2555860; Fax: +41-1-2554556, CH aut NATIONALLICENCE 700 1- Ott P. M. Klinik und Poliklinik für Otorhinolaryngologie, Hals- und Gesichtschirurgie, Universitätsspital Zürich, Frauenklinikstr. 24, 8091 Zürich, Switzerland e-mail: holzmann@orl.usz.ch Tel.: +41-1-2555860; Fax: +41-1-2554556, CH aut NATIONALLICENCE 700 1- Felix H. Klinik und Poliklinik für Otorhinolaryngologie, Hals- und Gesichtschirurgie, Universitätsspital Zürich, Frauenklinikstr. 24, 8091 Zürich, Switzerland e-mail: holzmann@orl.usz.ch Tel.: +41-1-2555860; Fax: +41-1-2554556, CH aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer