Work

Follow‐Up of Children With Primary Ciliary Dyskinesia

Year: 2026

Type: review

Abstract: Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder resulting in defective ciliary motility, which leads to a spectrum of clinical manifestations, including chronic upper and lower respiratory infections, middle ear disease, situs abnormalities, congenital heart defects, and infertility. The development of standardized management plans for pediatric patients with PCD is hindered by the lack of high-quality evidence regarding treatment and follow-up protocols, alongside significant inter-individual variability in disease severity and presentation. Moreover, the diagnosis of PCD is often delayed or missed, limiting timely access to specialized care. This review provides an analysis of the current literature on the follow-up of children with PCD. We reflect on the importance of integrated clinical services and consider the role of PCD services to drive research. We review how patients should be monitored during follow-up, particularly for upper and lower airway disease. We then discuss the importance of educating patients, families, and schools about the condition. We emphasize emerging consensus guidelines for patient monitoring and treatment, and we discuss resources that can support clinical management to improve patient outcomes.

Source: Pediatric Pulmonology

DOI: 10.1002/ppul.71679

Authors: Bruna Rubbo, Jonathan Wen Yi Ong, William Tsang, Lydia M. Newman, Jane S. Lucas

Institutions: University Hospital Southampton NHS Foundation Trust, NIHR Southampton Biomedical Research Centre, University of Southampton

Language: English

Topic: Cystic Fibrosis Research Advances

Subfield: Pulmonary and Respiratory Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,740