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Primary Ciliary Dyskinesia (PCD) is a heritable disorder in which the microscopic cilia that help clear mucus from the airways and support normal reproductive function do not work properly.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | PCD |
General information
Primary Ciliary Dyskinesia (PCD) is a heritable disorder in which the microscopic cilia that help clear mucus from the airways and support normal reproductive function do not work properly. As a result, mucus and debris accumulate, making affected dogs prone to chronic airway inflammation and infection. This form of PCD is an autosomal recessive condition identified in the Nova Scotia Duck Tolling Retriever.
Clinical features
Since ciliary dysfunction is present from birth, affected dogs typically show signs in puppyhood. Common features include persistent or recurrent respiratory problems such as nasal discharge, coughing, bronchitis and repeated sinus or lung infections. Ear infections may also develop and male dogs can show reduced fertility due to impaired sperm motility. In some cases, PCD is associated with situs inversus, a reversed arrangement of internal organs.
In sum, Nova Scotia Duck Tolling Retrievers with PCD develop chronic respiratory infections from a young age due to defective cilia. These infections cause progressive lung damage, and most affected dogs only live a few years. Because the disease severely impacts quality of life, many dogs are humanely euthanized when breathing difficulties and infections become unmanageable.
Additional information
References
Pubmed ID: Unpublished data University of Bern
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