A national survey on primary ciliary dyskinesia in Italy

Primary Ciliary Dyskinesia (PCD) is a rare, genetically heterogeneous disorder that affects ± 1 in 20,000 individuals and is associated with defective ciliary structure and function. Alteration in mucociliary clearance causes recurrent respiratory infections and subsequently severe chronic alterations in airways with progressive loss of lung function. We described the nr of patients with PCD across Italy, age at diagnosis and patient's characteristics. Centers caring for patients with PCD in Italy compiled a defined questionnaires on patient history, diagnosis, imaging, lung function and treatment. In total, 21 centers reported 261 patients (161 children); 53% were males, 51% had situs inversus and 64% had bronchiectasis. Neonatal respiratory distress was reported in 39% of the children. Mean age at diagnosis was 12.8 yrs (range 0-67 yrs); in patients < 18 yrs was 5.0 yrs; lower in children with situs inversus (4.2 versus 6.0 yrs; p=0.0127) and higher in children with bronchiectasis (7.0 yrs versus 3.5 yrs, p<0.0001). Ultrastructural (US) analysis (n=199) by TEM showed defects in IDA (17%), ODA (23%), IDA+ODA (40%), central apparatus (12%) and normal US (8%). FEV 1 was significantly lower in adult PCD patients (73% versus 90% pred. p<0.0001). 150 patients resulted positive at the last sputum culture, of whom 49 with Pseudomonas auruginosa. Symptoms that resulted to be reported as recurrent in the last years, were productive cough in 65%, sinusitis in 16% and non wheezing bronchitis 56%. This Italian survey suggests that PCD is underdiagnosed and diagnosed late. However, symptoms seem to differ and to be apparently better in respect to the presentation of classical PCD.