Primary Ciliary Dyskinesia: A Suggested Pathway to Transition From Pediatric to Adult Care

ABSTRACT

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder characterized by motile ciliary dysfunction that impairs mucociliary clearance. Symptoms of PCD can include unexplained neonatal respiratory issues, chronic sino‐otopulmonary symptoms, recurrent infections, bronchiectasis, and subfertility. It is expected that the number of adult patients with PCD is four times higher than the number of pediatric patients. There are no established guidelines for transitioning individuals with PCD from pediatric to adult clinics. Although the exact prevalence is difficult to determine, it is estimated that up to 13% of adults with non‐CF bronchiectasis have PCD. The Six Core Elements of Health Care Transition, developed by Got Transition, funded by the National Alliance to Advance Adolescent Health, and endorsed by the American Academy of Pediatrics, the American Academy of Family Physicians, and the American College of Physicians, can serve as a framework for transitioning PCD patients to adult care. Programs implementing the Six Core Elements have significantly reduced care dropouts during adolescence and early adulthood and increased engagement in care in early adulthood. PCD has been the subject of growing research aimed at improving diagnostic methods, treatments, and awareness, leading to earlier and more accurate diagnoses in both children and adults. Additionally, more adult PCD centers are seeking accreditation from the PCD Foundation and collaborating with pediatric centers to ensure continuity of care. Although many chronic diseases, such as cystic fibrosis (CF), inflammatory bowel disease (IBD), and, more recently, sickle cell disease, have established transition guidelines, PCD presents unique challenges that affect the transition process, as discussed in this work. We outline a pathway for transitioning pediatric patients with PCD to adult care.