Primary ciliary dyskinesia: clinical criteria indicating ultrastructural studies

Primary ciliary dyskinesia (PCD) is a congenital disease characterized by impaired ciliary function, which involves a wide range of symptoms that are mainly respiratory. Recent articles that base diagnosis on ciliary ultrastructural studies have estimated its prevalence to be 1/10,000 newborns, which is higher than previously thought. Our objective is to define criteria for clinical suspicion of DCP that would indicate ultrastructural studies, while optimizing these and providing early diagnoses.

Ours is a descriptive, retrospective review of patients diagnosed with DCP in the Pediatric Pulmonology Unit at our hospital, from 1994 to 2010. The inclusion of cases was based on clinical suspicion criteria. Diagnosis was confirmed by characteristic ultrastructural changes observed in the electron microscopic study of the cilia.

Sixty-three samples were analyzed, and 34 cases of DCP and one case of acilia were confirmed. Mean age at diagnosis was 3.6 (range: 1 month to 19 years of age). The most frequent initial symptom was prolonged neonatal tachypnea in the newborns (20%) and lower respiratory tract episodes in the school-aged patients: recurrent pneumonia (46%), difficult-to-control asthma (26%), bronchiectasis (8.6%) and massive atelectasis (2.9%). Associated symptoms were present in 46% of the cases.

Our publication proposes the implementation of several clinical criteria depending on the age of presentation that would indicate the active search for alterations in the ciliary epithelium at reference centers.