Present at birth
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.
At risk dogs are highly likely to show signs of this disease in their lifetime.
Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.
Inflammatory Pulmonary Disease, associated with the AKNA genetic variant, is similar in clinical presentation to primary ciliary dyskinesia (PCD). PCD is characterized by a defect of the motile cilia causing a loss function within the lungs as well as paranasal sinuses, middle ear, ependyma of the brain and the reproductive tract of females or sperm in males. The loss of motile cilia typically leads to recurrent infections of the upper and lower respiratory tract which may start within days of being born. Clinical signs are recurrent and may include nasal discharge, foamy vomiting, coughing, tachypnea and increased breathing sounds. Affected dogs may respond to treatments but tend to relapse quickly.
As there is no cure for this disorder, therapy is limited to general supportive care and treating secondary infections. Treatment typically consists of antibiotic therapy and secretolytics, as warranted. Long term studies are lacking for this condition; however, one study reported affected individuals to be alive at 3 years of age with frequent yellow nasal discharge.
There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.
This disorder is autosomal recessive, meaning two copies of the variant are needed for a dog to be at an elevated risk for being diagnosed with the condition. A carrier dog with one copy of the Inflammatory Pulmonary Disease (Discovered in the Rough Collie) variant can be safely bred with a clear dog with no copies of the Inflammatory Pulmonary Disease (Discovered in the Rough Collie) variant. About half of the puppies will have one copy (carriers) and half will have no copies of the variant. Furthermore, a dog with two copies of the Inflammatory Pulmonary Disease variant can be safely bred with a clear dog. The resulting puppies will all be carriers. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. However, in order to further reduce the prevalence of this variant in the breed population, use of dogs with one or two copies of the variant should be critically considered prior to matings. Please note: It is possible that disorder signs similar to the ones associated with this IPD variant could develop due to a different genetic or clinical cause.
All coordinates reference CanFam3.1
Hug, P., Anderegg, L., Kehl, A., Jagannathan, V., Leeb, T. (2019). AKNA frameshift variant in three dogs with recurrent inflammatory pulmonary disease. Genes (Basel), 10(8), 567. View the article