Disease overview

Recurrent Inflammatory Pulmonary Disease in Rough Collies is thought to be due to immune cell dysfunction. Mutations in the AKNA gene lead to autoimmunity and cause widespread inflammation. This inflammation tends to concentrate in the lungs and lead to respiratory disease. It should be noted that the mutation identified in Rough Collies has a cause that is different than other known instances of Recurrent Inflammatory Pulmonary Disease, which are typically due to cilia dysfunction.

Gene name

AKNA

Inheritance

Autosomal recessive

Signs and symptoms

Signs of Recurrent Inflammatory Pulmonary Disease in Rough Collies typically present early in life, starting as soon as 1 week old. Respiratory-specific clinical signs include coughing, noisy breathing, and nasal discharge. An affected dog may present with fever and vomiting. Dogs may respond to treatment but then relapse shortly after treatment ends.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Genetic testing of the AKNA gene will reliably determine whether a dog is a genetic carrier of this disease.

Breeds at higher risk

Citations

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):567. doi: 10.3390/genes10080567. PMID: 31357536; PMCID: PMC6723478.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.