Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic.

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-lik

SUBMITTER: Tinoco EM 

PROVIDER: S-EPMC10048503 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature