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- Title
Primary Ciliary Dyskinesia: A Clinical Review.
- Authors
Despotes, Katherine A.; Zariwala, Maimoona A.; Davis, Stephanie D.; Ferkol, Thomas W.
- Abstract
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, motile ciliopathy, characterized by neonatal respiratory distress, recurrent upper and lower respiratory tract infections, subfertility, and laterality defects. Diagnosis relies on a combination of tests for confirmation, including nasal nitric oxide (nNO) measurements, high-speed videomicroscopy analysis (HSVMA), immunofluorescent staining, axonemal ultrastructure analysis via transmission electron microscopy (TEM), and genetic testing. Notably, there is no single gold standard confirmatory or exclusionary test. Currently, 54 causative genes involved in cilia assembly, structure, and function have been linked to PCD; this rare disease has a spectrum of clinical manifestations and emerging genotype–phenotype relationships. In this review, we provide an overview of the structure and function of motile cilia, the emerging genetics and pathophysiology of this rare disease, as well as clinical features associated with motile ciliopathies, novel diagnostic tools, and updates on genotype–phenotype relationships in PCD.
- Subjects
CILIARY motility disorders; CILIA &; ciliary motion; RESPIRATORY infections; SYMPTOMS; GENETIC testing; TRANSMISSION electron microscopy
- Publication
Cells (2073-4409), 2024, Vol 13, Issue 11, p974
- ISSN
2073-4409
- Publication type
Article
- DOI
10.3390/cells13110974