Junior to adult onset
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 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.
HUU predisposes affected dogs to the formation of urate stones. Clinical signs of urolithiasis include hematuria, pain while urinating, and blockage of the urinary tract. Patients with urinary stones are more susceptible to urinary tract infections. Blockage of the urinary tract is a life-threatening condition that requires immediate veterinary care. In Dalmatians, the clinical signs are more common in males than in females. As many as 34% of all male Dalmatians are diagnosed with urate stones.
The condition can be partly managed through diet therapy. Dietary options and the importance of diet management, as well as, signs of urinary tract infection or blockage should be emphasized to clients.
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 disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to occur. A carrier dog with one copy of the HUU mutation can be safely bred with a clear dog with no copies of the HUU mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the HUU mutation. A dog with two copies of the HUU mutation 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. In some breeds, such as the Dalmatian, the frequency of the disease mutation is very high. Carriers and dogs with two copies of the disease mutation (genetically affected dogs) should be used for breeding purposes, with the aim of gradually reducing the frequency of the mutant gene within the breed population. Where possible, matings should be avoided that would result in litters that could contain dogs with two copies of the disease mutation, such as a mating between two dogs with two copies of the HUU mutation or between a dog with one copy and a dog with two copies of the HUU mutation. Please note: It is possible that disease signs similar to the ones caused by the HUU mutation could develop due to a different genetic or clinical cause.
All coordinates reference CanFam3.1
Bannasch, D., Safra, N., Young, A., Karmi, N., Schaible, R. S., & Ling, G. V. (2008). Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog. PLoS Genetics, 4(11), 1–8. View the article