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Early Diagnosis of Primary Ciliary Dyskinesia: The Role of the Pediatrician

Primary ciliary dyskinesia (PCD) is a polygenic autosomal recessive disorder that causes abnormal function of motile cilia. Organ laterality abnormalities are present in about 50% of individuals with PCD, and recurrent sinopulmonary infections are the predominant clinical manifestation. Although about 80% of individuals with PCD have a history of neonatal respiratory distress, and the symptoms of chronic cough and chronic nasal congestion most often begin in the first year of life, the median age of diagnosis is about 5 years. Diagnosing PCD can be challenging because the clinical phenotype overlaps other more common respiratory illnesses and disorders, including cystic fibrosis (CF), immunodeficiency, and anatomical and physiological aerodigestive disorders. Despite the genetic discovery and other research that has transformed this field over the past decade, it is rare to make a diagnosis of PCD in the first year of life. Early diagnosis offers the ability to intervene with airway clearance measures and other therapies prior to the development of irreversible lung damage. Here, we present a unique case that highlights the vital role of the general pediatrician in making an early diagnosis as well as the continued challenges in management of PCD.