Case series of 25 children with Primary Ciliary Dyskinesia (PCD): evolution over the last 33 years

Abstract

Background: PCD is a mucociliary clearance deficiency characterized by recurrent respiratory tract infections. Over the last years our knowledge about PCD has improved but more investigations are needed to understand its clinical manifestations and evolution.

Objectives: To describe the diagnostic procedure, genetic findings and clinical course of children with PCD.

Methods: Retrospective study of children diagnosed with PCD in a tertiary hospital between 1987-2020. Diagnostic tests, clinical presentation and evolution were analyzed after accepted participation.

Results: 40 patients were diagnosed with PCD, 15 of them were discharged for missing data. The remaing 25 patients were followed-up during a median time of 7,5 years (IQR 7,75). 12% had family history of PCD. Symptoms started at a mean age of 5.12 months (SD 8,20), 52% during neonatal period (69,2% with respiratory distress). Median age at diagnosis was 4,4 years (IQR 5,7). Most patients (96%) were diagnosed by ciliary beat study. Genetic tests were performed in 72% (2/3 had PCD disease-causing mutations). CT scan showed bronchiectasis in 32% (median age at onset 8,5 years; IQR 6,75). Continued colonization was reported in 48% (H.Influenza 84,6%; S. Pneumonia 23%). Patients with partial adherence to treatment (64%) frequently presented continued colonization but with no statistical difference (p=0,34).

Conclusion: Respiratory distress during the neonatal period was the most frequent onset. However, diagnosis was delayed for a few years probably due to its non-specific symptoms and lack of related family history. Adherence to treatment is crucial to prevent common complications such as bronchial colonization.