Clinical, phenotype and genotype correlations in primary ciliary dyskinesia suspected children in Egypt.

ABSTRACT:

Introduction

Primary ciliary dyskinesia (PCD) is a rare hereditary disorder affecting mucociliary clearance due to ciliary dysfunction. This study aimed to confirm PCD diagnosis in clinically suspected Egyptian individuals and assess genotype-phenotype correlations.

Methods

73 PCD-suspected individuals underwent clinical examination, radiological evaluation (chest and sinus CT), and Next-Generation Sequencing (NGS) for a PCD multigene panel. Immunofluorescence (IF) analysis was used to confirm the pathogenicity of identified variants.

Results

Consanguinity was reported in 91.9% of cases, with delayed diagnoses spanning 1-18 years. All individuals exhibited a chronic wet cough; 97.3% experienced nasal congestion, 86.5% chronic sinusitis, 75.7% recurrent otitis media, 3

SUBMITTER: Rizk H 

PROVIDER: S-EPMC12511765 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature