Clinical care for primary ciliary dyskinesia: current challenges and future directions

Eur Respir Rev. 2017 Sep 6;26(145):170023. doi: 10.1183/16000617.0023-2017. Print 2017 Sep 30.

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.

Publication types

  • Review

MeSH terms

  • Critical Pathways* / standards
  • Genetic Predisposition to Disease
  • Humans
  • Kartagener Syndrome / diagnosis
  • Kartagener Syndrome / epidemiology
  • Kartagener Syndrome / genetics
  • Kartagener Syndrome / therapy*
  • Mucociliary Clearance* / genetics
  • Phenotype
  • Predictive Value of Tests
  • Prognosis
  • Referral and Consultation
  • Risk Factors