الفهرس 
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Abstract
Primary ciliary dyskinesia (PCD) is a chronic disease that adversely impacts the respiratory system, producing a diverse variety of phenotypic features. The prevalence has been estimated to be 1:10000 births with a higher prevalence rate among populations with high consanguineous marriage.
Diagnosis of PCD represents a great challenge, especially in resource-limited countries. This is attributed to the sophisticated and expensive diagnostic tools, the lack of experienced personnel to handle these modalities, and the absence of a unified gold standard diagnostic test. Some of these modalities are genotyping, high-speed video microscopy, transmission electron microscopy (TEM), immune-fluorescence for ciliary proteins, nasal Nitric Oxide (nNO), and electron microscopy tomography
In order to enhance the diagnostic process, many clinical rating scores have been utilized by many PCD centers to identify candidate patients for referral for PCD evaluation. Some of these scores are the PICADAR, NA-CDCF, and CI scores.
The main objectives of the study were to describe the results of TEM and genotyping as PCD diagnostic tools and to register all PCD-suspected patients at Alexandria University Children’s Hospital. The performance of different screening scores has been evaluated among the study cohort.
The study was carried out between January 2019 and December 2022 on 48 PCD-suspected cases. Any patient with a proven diagnosis of another disease that has clinical similarities to PCD was excluded. Nasal brush biopsies were taken without local anesthesia and samples were processed and examined by TEM at the Faculty of Sciences, Alexandria University. Genotyping for PCD-causing mutations was done for 30 cases from 26 different families.