Kawther Al Adawi, Aliya Al Ansari, Nawal Al Shamli, Khoula Al Shidhani, Ahmed Qoura, Saif Al Mubaihsi, Jamal Al-Aghbari, Taher Baomar, Hussein Al Kindi, Almundher Al-Maawali
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引用次数: 0
Abstract
Background: Primary Ciliary Dyskinesia (PCD) is a Mendelian disorder most commonly inherited in an autosomal recessive pattern. It impairs the mucociliary clearance in the respiratory system. As genetic variants linked to this disorder continue to be identified, genetic testing becomes more accessible. This study aimed to characterize genetic variants associated with PCD in a consanguineous population.
Methods: Medical records of 327 affected individuals from 242 families, all strongly suspected of having PCD, were reviewed. All patients exhibited at least two of the four main clinical symptoms of PCD: unexplained neonatal respiratory distress in term infants, year-round daily cough since infancy, year-round nasal congestion since infancy, or organ laterality defects.
Results: Out of the cohort, 130 affected individuals from 117 families underwent genetic testing, which included targeted Sanger sequencing, exome sequencing, or panel sequencing. The genetic diagnostic rate was 33%, with 43 of these 130 patients from 24 families receiving a molecular diagnosis. Electron microscopy (EM) revealed ciliary ultrastructural defects in 13 of the 43 patients, which correlated with their genetic variants.
Conclusions: This represents the largest cohort of PCD patients from the Middle East. The findings highlight the genetic diversity of PCD and underscore the importance of genetic testing for diagnosis. We report novel variants and contribute to the growing understanding of the genetic causes of PCD. Early genetic diagnosis can significantly influence timely management, helping to prevent lung damage and other complications associated with this challenging disease.
期刊介绍：
Pediatric Pulmonology (PPUL) is the foremost global journal studying the respiratory system in disease and in health as it develops from intrauterine life though adolescence to adulthood. Combining explicit and informative analysis of clinical as well as basic scientific research, PPUL provides a look at the many facets of respiratory system disorders in infants and children, ranging from pathological anatomy, developmental issues, and pathophysiology to infectious disease, asthma, cystic fibrosis, and airborne toxins. Focused attention is given to the reporting of diagnostic and therapeutic methods for neonates, preschool children, and adolescents, the enduring effects of childhood respiratory diseases, and newly described infectious diseases.
PPUL concentrates on subject matters of crucial interest to specialists preparing for the Pediatric Subspecialty Examinations in the United States and other countries. With its attentive coverage and extensive clinical data, this journal is a principle source for pediatricians in practice and in training and a must have for all pediatric pulmonologists.
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