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2016 ; 37
(3
): 449-61
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Primary Ciliary Dyskinesia
#MMPMID27514592
Knowles MR
; Zariwala M
; Leigh M
Clin Chest Med
2016[Sep]; 37
(3
): 449-61
PMID27514592
show ga
Primary ciliary dyskinesia (PCD) is a recessive genetically heterogeneous
disorder of motile cilia with chronic otosinopulmonary disease and organ
laterality defects in ?50% of cases. The prevalence of PCD is difficult to
determine. Recent diagnostic advances through measurement of nasal nitric oxide
and genetic testing has allowed rigorous diagnoses and determination of a robust
clinical phenotype, which includes neonatal respiratory distress, daily nasal
congestion, and wet cough starting early in life, along with organ laterality
defects. There is early onset of lung disease in PCD with abnormal airflow
mechanics and radiographic abnormalities detected in infancy and early childhood.