الفهرس 
IntroductionOnly 14 pages are availabe for public view
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Abstract
PCD is a highly heterogeneous disease whose diagnosis can be obscure, and the age at onset is difficult to ascertain partly because of its atypical clinical manifestations and non-awareness of the disorder for most of the physicians in basic hospitals in Egypt and worldwide. We performed a single cohort analytical study on 42 Egyptian patients meeting the ATS criteria for primary ciliary dyskinesia who attend to follow up or admitted in Mansoura University children hospital in the duration between august 2019 and august 2021. A detailed history taking and thorough examination was performed for all patients. A multigene panel for PCD was carried out at Omran laboratory, Munster, Germany. NGS detected 12 different PCD causing mutations among 54% of our clinically diagnosed cases. Among the genetic heterogeneity revealed in this Egyptian cohort, mutations in a gene essential for central apparatus HYDIN were more commonly detected (17.4%) than DNAH5 (13%) and DNAI1 (not detected in any of our patients). However, DNAH5 and DNAI1 mutations were common among PCD patients in previous studies. Both (DNAH5 & DNAI1) encode outer dynein arm proteins. Despite the current incomplete PCD gene list, this strongly supports the importance of including genetics into the diagnostic pathway where it can play a key role, overcoming the pitfalls of other diagnostic measures.