Aug 2026· Respiratory care· pp.
19433654261473338
· 0 citations· 33 references
Medicine
TL;DR
This review aims to synthesize emerging data to provide a primer on PCD, as well as summarize newer diagnostic approaches, and synthesize emerging data to provide a primer on PCD.
Abstract
Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by dysfunction of motile cilia throughout the body. Within the upper and lower airways, this ciliary dysfunction results in impaired mucociliary clearance. Leading to chronic, progressive respiratory disease culminating in bronchiectasis. PCD remains underdiagnosed, in part due to clinical heterogeneity and challenges in diagnostic testing. Advances in molecular genetics and ciliary function assessment have substantially reshaped understanding of PCD prevalence, phenotype, and diagnostic strategy. Recent evidence suggests PCD is far more prevalent than previously thought. New findings in have resulted in a joint American Thoracic Society/European Respiratory Society international guideline for diagnosis of PCD. This review aims to synthesize emerging data to provide a primer on PCD, as well as summarize newer diagnostic approaches. This work was presented in part at the 41st Phil Kittredge Memorial Lecture at the 2025 AARC International Congress entitled "Advancement in Personalized Respiratory Care."
Primary ciliary dyskinesia (PCD) is a rare inherited disorder of motile ciliary dysfunction characterized by impaired mucociliary clearance, chronic sino-pulmonary disease, and progressive bronchiectasis. Pulmonary exacerbations (PEx) are a major contributor to morbidity, lung function decline, and healthcare utilizati...
D. Gatt, Inbal Golan-Tripto, A. Goldbart et al.· European Journal of Pediatri...· 0 citations
Variants in the CFTR and SFTPC genes may be associated with PCD in children, and this case highlights the importance of early genetic variant testing and ciliary ultrastructural analysis in children with recurrent respiratory tract infections, bronchiectasis, or chronic sinusitis.
Xin-Hui Yuan, Dan Shao, Yu-Mei Li et al.· Case Reports in Medicine· 0 citations
HGF levels in both serum and BAL fluid are significantly associated with disease severity in children with primary ciliary dyskinesia, and their associations with clinical, functional, and radiological measures of disease severity are investigated.
E. Fouda, Maha M. K. Barakat, Terez B. Kamel et al.· Clinica Terapeutica· 0 citations
Primary ciliary dyskinesia (PCD) is an inherited motile-cilia disorder. Impaired mucociliary transport promotes persistent secretion retention, infection, inflammation, and bronchiectasis. The central treatment problem is therefore failure of airway clearance rather than infection alone. This narrative review evaluates...
Jia-Hui Zhao, Li-Na Chen, Wen-Hao Yang et al.· Journal of Clinical Medicine· 0 citations
Background. In pediatric practice, there exists a rare and difficult-to-diagnose hereditary disorder known as Kartagener syndrome, which is a clinical manifestation of primary ciliary dyskinesia. A classic triad of signs characterizes this disease: situs inversus, chronic bronchiectasis, and chronic rhinosinusitis, lea...
A. A. Dyachkova, Evgeny A. Pudkov· University proceedings Volga...· 0 citations
A review of renal ciliopathies systematically elucidates the molecular mechanisms and aberrant signaling pathways in renal ciliopathies, links genetic heterogeneity to clinical phenotypes, and lays a theoretical basis for prenatal diagnosis and novel therapies.
Qiaowei Zhang, S. Xue, Zhi Gao et al.· Journal of cell communicatio...· 0 citations
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