Clinical and molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experience.

ABSTRACT:

Background

Primary ciliary dyskinesia (PCD) is a ciliopathy with diverse clinical and genetic findings caused by abnormal motile cilia structure and function. In this study, we describe the clinical characteristics of confirmed PCD cases in our population and report the radiological, genetic, and laboratory findings.

Methods

This was a retrospective, observational, single-centre study. We enrolled 18 patients who were diagnosed with confirmed PCD between 2015 and 2019. We then analyzed their data, including clinical findings and workup.

Results

In our cohort, 56% of patients had molecularly confirmed PCD, and RSPH9 was the most common gene identified. Transmission electron microscopy (TEM) showed an ultrastructural defect in 64% of samples, all of which matched the ge

SUBMITTER: Alzaid M 

PROVIDER: S-EPMC8356118 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature