![]() ![]() Briefly, the samples were initially fixed with 2.5% glutaraldehyde (Sigma-Aldrich, St. Nasal samples were analyzed as previously reported. ![]() Despite the lack of a specific treatment, it is critical to confirm the diagnosis with genetic testing in order to effectively manage the disease and its accompanying disorders. To summarize, PCD is an uncommon but significant hereditary illness with consequences regarding morbidity and mortality. Genetic test data was obtained for all 17 patients, with 7 of them (41.2%) displaying a pathogenic/likely pathogenic mutation in homozygosity. Furthermore, 12 patients were subjected to transmission electron microscopy (TEM), with 7 (58.3%) exhibiting one hallmark defect. In total, 17 patients were included in the study, with 12 (66.7%) having PCD confirmed and 5 (29.4%) having a high-likelihood diagnosis. A retrospective observational analysis was conducted with patients who were being monitored at a bronchiectasis outpatient clinic in 2022 and had a confirmed or high-likelihood diagnosis of PCD. The purpose of this study is to describe the clinical and pathological features of Portuguese patients with PCD and to examine their genetic variants. Several mutations with varied clinical and pathological features have been documented, making diagnosis a challenging process. Primary ciliary dyskinesia (PCD) is a rare hereditary condition characterized by decreased mucociliary clearance of the airways and a compromised reproductive system, resulting in male and female infertility. ![]()
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