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- Title
Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic.
- Authors
Tinoco, Eduarda Milheiro; Gigante, Ana Rita; Ferreira, Edite; Sanches, Inês; Pereira, Rute; Sá, Rosália; Monteiro, Regina; Sousa, Mário; Pascoal, Ivone
- Abstract
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. Several mutations with varied clinical and pathological features have been documented, making diagnosis a challenging process. The purpose of this study is to describe the clinical and pathological features of Portuguese patients with PCD and to examine their genetic variants. 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. 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. Furthermore, 12 patients were subjected to transmission electron microscopy (TEM), with 7 (58.3%) exhibiting one hallmark defect. Genetic test data was obtained for all 17 patients, with 7 of them (41.2%) displaying a pathogenic/likely pathogenic mutation in homozygosity. To summarize, PCD is an uncommon but significant hereditary illness with consequences regarding morbidity and mortality. 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.
- Subjects
CILIARY motility disorders; MUCOCILIARY system; GENETIC testing; BRONCHIECTASIS; FEMALE infertility; TRANSMISSION electron microscopy
- Publication
Genes, 2023, Vol 14, Issue 3, p541
- ISSN
2073-4425
- Publication type
Article
- DOI
10.3390/genes14030541