Bronchial Wall Biopsy For Ciliary Samples In Children With Primary Ciliary Dyskinesia

Background: According to the combined statement of ERS and ATS, diagnosis of PCD relies on multiple test modalities. The diagnosis is sometimes delayed due to low yield of some of the tests. This can result in lung health decline. Nasal brush biopsy is one of the tests in which ciliated epithelium is looked at under electron microscope. It’s a crude procedure and can sometimes produce low quality specimen without any diagnostic yield. We did bronchial brush biopsies for children admitted due to an exacerbation where diagnosis had been delayed despite best efforts. Methods: Biopsy specimen were taken from right main stem bronchus under general anaesthesia. Nasal brush biopsy specimen were taken simultaneously. Age appropriate Olympus flexible bronchoscopes were used and specimen were stored in glutaraldehyde solution.Cytosoft cytology brush was used for nasal scrapping from the inferior turbinate. Results: Ten patients (7 females,3 males) were included in this retrospective analysis.TEM (transmission electron microscopy) analysis of 6 bronchial wall biopsy specimen yielded normal results. Corresponding nasal brush biopsy specimen also produced normal results on TEM. Two bronchial specimen were abnormal with no central microtubules.Similar results were seen in corresponding nasal brush biopsies. However, remaining two bronchial wall biopsies reported reduced number(low density) of cilia and outer dyenin arm defects on EM.Nasal brush samples for these patients were normal. Conclusions: Nasal brush biopsy in an outpatient setting is technically challenging and can result in inadequate specimen.Bronchial wall biopsy produces good sample volume which has a sensitivity of 100% for ciliary ultrastructural defects.