Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease with clinical features of ear, sinus, and pulmonary infections that overlap with common respiratory illnesses of childhood. It is a… Click to show full abstract
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease with clinical features of ear, sinus, and pulmonary infections that overlap with common respiratory illnesses of childhood. It is a progressive disorder that has significant influence on quality of life, lung function, and survival. Given the considerable overlap of symptoms between common illnesses and PCD, a high index of suspicion by primary care providers is needed to consider the diagnosis. There is not a single "gold standard" diagnostic test for PCD and multiple diagnostic methods coupled with specialized expertise is often needed to make the diagnosis. Patients with PCD also have comorbidities requiring a multidisciplinary approach for optimal clinical management. It is important for primary care physicians to recognize the PCD clinical phenotype and have a diagnostic framework for these patients. [Pediatr Ann. 2022;51(2):e82-e85.].
               
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