Primary ciliary dyskinesia is an autosomal-recessive congenital disease of dogs characterized by abnormal respiratory epithelial development resulting in dysplastic or immotile cilia.
The genetic defect results in motility defects in the respiratory cilia that are responsible for airway clearance, as well as the flagella that propel sperm cells and the nodal monocilia that determine left-right asymmetry.
The most prominent primary defects consist of absent inner dyneim arms, absent radial spokes and absence of the central microtubules.
Clinically affected pups are usually young when first symptoms appear, which included poor weight gain, coughing, nasal discharge, wheezing, fever, otitis externa, otitis media, chronic rhinitis and bronchopneumonia.
Radiographic and CT/MRI imaging may reveal varying degrees of hypoplastic nasal sinuses and atresia of the frontal sinuses, secondary bronchiectasis and a secretory otitis media from ciliary dysfunction in the middle ear (manifested in some dogs by sclerotic tympanic bullae).
Semen samples from dogs may show high percentage of spermatozoa with abnormal tails and poor progressive motility.
Diagnosis is difficult without bronchoscopic visualization of respiratory epithelium.
A definitive diagnosis requires histopathological examination of respiratory epithelium.
- University of Minnesota
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