| Popis: |
Background and Aim: Primary ciliary dyskinesia(PCD) is a genetic disorder characterized by heterogeneous airway disease.Diagnostic delay and recurrent lung infections are the main reason of bronchiectasis in these children.However children with PCD have changing severity of bronchiectasis.Here we aimed to evaluate the severity of bronchiectasis and lung function tests in children with PCD according to genotype. Methods: We analyzed the radiological bronchiectasis score(Brody score), lung function tests of 25 patients with PCD according to their genetic results. Results: The median age of patients at the time of chest CT was 11 years(1-19 years).Median values of CT score in the whole group:Total CT score 38.7(IQR:28.3), total bronchiectasis score 12.7(IQR:10.6), right upper lobe bronchiectasis score 2(IQR:4.5), right middle lobe bronchiectasis score 8.5(IQR:15), right lower lobe bronchiectasis score 5.5(IQR:9), left upper lobe bronchiectasis score 0.5(IQR:4.1), lingula bronchiectasis score 3.5(IQR:10.7), left lower lobe bronchiectasis score was found to be 9.5(IQR:17.2). According to genotype results; patients with CCNO mutations had higher total bronchiectasis score, mucous plugging, peribronchial thickening, parenchymal and hyperinflation score compared with other mutations; also FEV1 z score(p:0.37) and FEF 25-75 z score(p:0.66) were low in the CCNO mutation. But these findings were not statistically significant. Conclusion: Our study showed that the bronchiectasis score and other radiological scores were higher in the CCNO mutation group associated with decreased cilia, and the pulmonary function tests were lower suggesting the worse prognosis of this subgroup. |
