Naslov
Problems of making and confirming the diagnosis of primary ciliary dyskinesia (PCD) in children still exist

Autori
Banac, Srđan ; Rožmanić, Vojko ; Manestar, Koraljka ; Ahel, Vladimir

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, ostalo

Izvornik
ERS Anual Congress Barcelona 2010 / - Barcelona : ERS Anual Congress Barcelona 2010, 2010

Skup
ERS Anual Congress Barcelona 2010

Mjesto i datum
Barcelona, Španjolska, 18.09.2011. - 22.09.2011

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Diagnosis; Primary ciliary dyskinesia

Sažetak
Background: Most children with notable chronic respiratory symptoms will be found to have asthma or an other wheezing phenotype. Only a minority of them will have one of the rarer diseases including PCD. PCD shows a broad spectrum of clinical severity, thus milder cases may remain undiagnosed. Report: Five children (aged <18 yrs ; 3 boys) suffering from PCD are treated at our clinic. Considering the size of paediatric population gravitating to the clinic estimated prevalence of PCD in the area is 1 in 20, 000. All five patients have chronic rhinosinusitis and bronchiectasis. Two of them have situs inversus. The mean age at diagnosis was 5.8 yrs (8.1 yrs for those without situs inversus) which is much higher than for cystic fibrosis patients (10 mth) currently treated (n=11) in the same clinic. Abundant purulent secretion was found on brochoscopy in all five PCD patients. Bronchoscopic samples of epithelial cells obtained by forceps were promptly analyzed under light microscopy and immotile or dyscinetic cilia were observed in all cases. Structural abnormalities of cilia were not confirmed by electron microscopy in one patient with normal situs. Levels of FeNO were in all cases low (5-8 p.p.b). No one of the patients is chronically infected with P.aeruginosa. Their lung function is occasionally or permanently mildly to moderately altered (FVC 66-93% ; FEV1 51-79%). Conclusion: Although the ERS consensus statement on PCD in children has recently been published the problems of its undiagnosing or misdiagnosing still exist especially in smaller centres and countries where more sophisticated specific ciliary tests are mainly unavailable

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA