Recurrent Inflammatory Pulmonary Disease

Common Symptoms

Recurrent inflammatory pulmonary disease is an inherited disease affecting rough collies. Affected dogs present within the first week of life with signs of respiratory disease including coughing, nasal discharge, fever, vomiting, and shallow, noisy breathing. Dogs respond to treatment, but relapse quickly after treatment has ended. Some dogs may be maintained with medical therapy for years while continuing to have signs of respiratory disease throughout their life.

Breed-Specific Information for the Rough Collie

The Mutation of the AKNA gene associated with recurrent inflammatory pulmonary disease has been identified in the rough collie. Though the exact frequency in the overall rough collie population is unknown, one study found approximately 21% of 85 rough collies studied were carriers of the mutation.

Testing Tips

Genetic testing of the AKNA gene in rough collies will reliably determine whether a dog is a genetic Carrier of recurrent inflammatory pulmonary disease. Recurrent inflammatory pulmonary disease is inherited in an Autosomal Recessive manner in dogs. This means that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the AKNA gene mutation. Reliable genetic testing is important for determining breeding practices. To eliminate this mutation from breeding lines and avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Rough collies that are not carriers of the mutation have no increased risk of having affected pups.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.

References

• Hug P, Anderegg L, Kehl A, Jagannathan V, Leeb T. AKNA Frameshift Variant in Three Dogs with Recurrent Inflammatory Pulmonary Disease. Genes (Basel). 2019 Jul 26;10(8). pii: E567. [PubMed: 31357536]