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Clinical and Genetic Characterization of Patients with Primary Ciliary Dyskinesia in Southwest Saudi Arabia

A Cross Sectional Study

Bibliographic Data

ID15719940
AuthorsAli Alsuheel Asseri (0000-0001-9858-9789, King Khalid University, corresponding author), Ayed A Shati (0000-0003-0444-5595, King Khalid University), Ibrahim A Asiri (King Khalid University), Reem Hamad S Aldosari (King Khalid University), Hassan Ali Alamri, Mohammed Alshahrani (0000-0001-5946-2128, Asir Central Hospital), Badriah G Alasmari, Haleimah Alalkami (Maternity and Children's Hospital)
Year2023
Volume10
Issue10
Pages1684-1684
Publication date2023-10-13
Open AccessYes
TypeARTICLE
VenueChildren (JOURNAL)
Journal identifiersISSN: 2227-9067 • E-ISSN: 2227-9067
PublisherMultidisciplinary Digital Publishing Institute (PUBLISHER • CH)
DOI10.3390/children10101684
PMID37892347
OpenAlexW4387617230
LanguageEN
References cited3

This study provides preliminary data on the clinical and genetic characteristics of PCD patients in the southwestern region of Saudi Arabia. We found that DNAH5 and RSPH9 genes were the most common genes among the studied population. Furthermore, PCD should be considered for each child with early NRD and laterality defects, and further confirmatory tests are recommended. These findings also highlight the need for greater awareness of the disease in daily clinical practice to facilitate early diagnosis and avoid irreversible lung damage

Bronchiectasis · Cross-sectional study · Incidence (geometry · Kartagener Syndrome · Lung · Pathology · Primary ciliary dyskinesia · Cystic Fibrosis Research Advances · Medicine · Neonatal Respiratory Health Research · Tracheal and airway disorders · Internal Medicine · Pediatrics

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Highly citedNo

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