CILIARY DYSFUNCTION

Course overview

THE MAJORITY OF NEWBORNS WITH PRIMARY CILIARY DYSFUNCTION (PCD), FORMERLY KNOWN AS IMMOTILE CILIA SYNDROME, DEVELOP NEONATAL RESPIRATORY DISTRESS WITH ATELECTASIS VISIBLE ON CHEST RADIOGRAPH. UNLIKE OTHER CAUSES OF RESPIRATORY DISTRESS IN NEWBORNS, WHICH OCCUR IN THE FIRST FEW HOURS AFTER BIRTH, THE RESPIRATORY DISTRESS ASSOCIATED WITH PRIMARY CILIARY DYSFUNCTION PATIENTS OCCURS 12 TO 24 HOURS AFTER BIRTH IN TERM INFANTS. THE FOUR MAIN CLINICAL FEATURES THAT HAVE BEEN DESCRIBED IN PRIMARY CILIARY DYSFUNCTION ARE UNEXPLAINED NEONATAL RESPIRATORY DISTRESS IN TERM INFANTS, EARLY-ONSET YEAR-ROUND WET COUGH, EARLY-ONSET YEAR-ROUND NASAL CONGESTION, AND LATERALITY DEFECTS. IF THREE OR MORE OF THESE FEATURES ARE MET, THE SPECIFICITY FOR PRIMARY CILIARY DYSFUNCTION DIAGNOSIS IS MORE THAN 96%. THIS ACTIVITY HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM TO IMPROVE CARE FOR PATIENTS WITH PRIMARY CILIARY DYSFUNCTION.