Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital.

ABSTRACT: Primary ciliary dyskinesia (PCD) causes cellular cilia motility alterations, leading to clinical manifestations in the upper and lower respiratory tract and situs abnormalities. The PCD diagnosis was improved after the inclusion of diagnostic tools, such as transmission electron microscopy and genetic screening; however, the PCD screening is a challenge yet. In this context, we aimed to describe the clinical, genetic, and ultra-ciliary characteristics in individuals with clinical suspicion of PCD (cPCD) from a Brazilian Tertiary Hospital. An observational study was carried out with individuals during the follow-up between 2011 and 2021. The individuals were submitted to clinical questionnaires, transmission electron microscopy, and genetic screening for pathogenic variants in PCD-related g

SUBMITTER: Toro MDC 

PROVIDER: S-EPMC9324289 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature