Primary ciliary dyskinesia cases bronchoscopic sampling and TEM analysis: sampling & diagnosis in PCD.

Abstract

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder characterized by impaired ciliary structure and function, leading to chronic respiratory symptoms and recurrent infections. Despite its clinical significance, PCD diagnosis remains challenging due to its variable presentation and the lack of a gold standard diagnostic test. Specific clinical criteria, including neonatal respiratory distress and laterality defects, aid in suspicion of PCD, but confirmatory diagnosis often requires a combination of tests. In this study, we aimed to assess the efficacy of bronchoscopic techniques in obtaining respiratory epithelial samples for transmission electron microscopy (TEM) analysis. We enrolled adults with bronchiectasis and suspected PCD who underwent fiberoptic bronchoscopy. Bronchial forceps and brush biopsies were obtained from specific bronchial segments under conscious sedation. Tissue samples were processed for TEM analysis to identify ultrastructural axonemal defects associated with PCD. Our study included 10 patients (3 females, 7 males) aged 19-38 years, with detailed demographics and clinical characteristics provided. Evaluation of tracheobronchial biopsy samples revealed higher histological scores for the presence of ciliated cells and transverse sections of cilia in pellets obtained from brush biopsies and fixative solutions of forceps biopsy compared to forceps biopsy tissue samples. Electron microscopic examination of ultra-thin sections demonstrated abundant ciliated cells and abnormal cilia structures, aiding in the diagnosis of PCD in pellets. PCD represents a significant etiology of bronchiectasis, emphasizing the need for accurate diagnosis and appropriate management strategies. Our findings highlight the importance of bronchoscopic techniques, including bronchial brushing alongside forceps biopsies, in enhancing diagnostic yield and guiding timely intervention to improve patient outcomes.