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Primary Ciliary Dyskinesia (PCD) is a genetic disease that results in defective cilia, the cellular structures responsible for moving fluids such as mucus.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 37 |
| Mutation | c.2868-1G>A |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | PCD |
Informations générales
Primary Ciliary Dyskinesia (PCD) is a genetic disease that results in defective cilia, the cellular structures responsible for moving fluids such as mucus. PCD can cause severe and chronic airway infections and fertility problems. This variant of the disorder, found in the Australian Shepherd, is caused by a recessive mutation to the gene STK36.
Caractéristiques cliniques
Affected dogs present within the first few months after birth with recurrent, frequent airway infections, typically including repeated bouts of sneezing and yellow or green discharge from the nose. Treatments such as corticosteroids and inhalation therapy can help treat symptoms, but the dog will remain vulnerable to subsequent infections.
Additional Information
Références
Pubmed ID: 36786090
Year published: 2023
Omia ID: 2623
Omia variant ID: