Clinical care for primary ciliary dyskinesia: current challenges and future directions. (6th September 2017)

• Record Type: Journal Article
• Authors: Rubbo, Bruna; Lucas, Jane S.
• Is Part Of: European respiratory review. Volume 26:Number 145(2017)
• Publication Date: 2017-09-06
• Subjects: Respiratory organs -- Diseases -- Periodicals; Respiratory Tract Diseases; Respiratory organs -- Diseases; Respiratory organs -- Diseases -- Treatment; Electronic journals; Periodical; Periodicals; Periodicals; 616.2
• DOI: 10.1183/16000617.0023-2017
• Languages: English
• ISSNs: 0905-9180

Abstract

Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia, leading to impaired mucociliary clearance. It is estimated that the vast majority of patients with PCD have not been diagnosed as such, providing a major obstacle to delivering appropriate care. Challenges in diagnosing PCD include lack of disease-specific symptoms and absence of a single, "gold standard", diagnostic test. Management of patients is currently not based on high-level evidence because research findings are mostly derived from small observational studies with limited follow-up period. In this review, we provide a critical overview of the available literature on clinical care for PCD patients, including recent advances. We identify barriers to PCD research and make suggestions for overcoming challenges. Challenges in PCD must be overcome through international collaboration; networks must build on recent advances http://ow.ly/4d4I30dXzWg