Primary ciliary dyskinesia: A review

Context

Primary ciliary dyskinesia (PCD) is a rare genetic disease characterized by impaired mucociliary clearance in the respiratory tract due to abnormal ciliary motility. The disease is often diagnosed late with bronchiectasis. This review explores the clinical and genetic correlates of PCD and advances in its management.

Evidence acquisition

Electronic databases such as PubMed, Scopus, Web of Science, and Google Scholar were searched using the keywords "ciliary motility disorders," "situs inversus," "recurrent rhinitis," and "bronchiectasis." Reference lists of the retrieved studies, including original articles, reviews, case reports, and case series from the last 30 years, were also reviewed.

Results

Nasal nitric oxide (nNO) is a screening tool, but some genetic variants show discrepancies with nNO measurements. Future diagnostics will focus on genotype determination and its association with phenotype, ciliary structure, and function.

Exhaled breath condensate is also a potential diagnostic tool. New treatments include azithromycin maintenance therapy (BESTCILIA-trial). Gene therapy and mRNA therapy are emerging as promising approaches.

Conclusion

PCD diagnosis and treatment are often delayed due to its presumed rarity.However, the increasing discovery of new genetic variants worldwide indicates it is underestimated. Unexplained neonatal respiratory distress, early onset recurrent rhinosinusitis, recurrent otitis media, and reduced fertility are subtle indicators of PCD.