Quick Summary
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Phenotype: Hyperuricosuria is characterized by elevated levels of uric acid in the urine and can lead to the formation of bladder/kidney stones.
Mode of Inheritance: Autosomal recessive
Alleles: N = Normal/Unaffected, HU = Hyperuricosuria
Breeds appropriate for testing: All dog breeds, including American Pitbull Terrier, American Staffordshire Terrier, Australian Shepherd, Black Russian Terrier, Bulldog, Catahoula Leopard Dog, Dalmatian, Danish-Swedish Farmdog, French Bulldog, German Hunting Terrier, German Shepherd, Giant Schnauzer, Jack Russel/Parsons Terrier, Kromfohrländer, Labrador Retriever, Lagotto Romagnolo, Large Munsterlander, South African Boerboel, Spaniel de Pont-Audemer, Swedish Vallhund, Vizsla, Weimaraner
Explanation of Results:
- Dogs with N/N genotype will not have hyperuricosuria and will not transmit this hyperuricosuria variant to their offspring.
- Dogs with N/HU genotype will not have hyperuricosuria, but are carriers. They will transmit this variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% hyperuricosuria-affected puppies.
- Dogs with HU/HU genotype will be affected and are susceptible to develop bladder/kidney stones. They will transmit this hyperuricosuria variant to all of their offspring.
Results of this test can be submitted to the OFA (Orthopedic Foundation for Animals)
Bulldog Health Panel
$105 per animal
French Bulldog Health Panel 1
$130 per animal
French Bulldog Health Panel 2
$130 per animal
German Shepherd Health Panel
$130 per animal
Labrador Retriever Health Panel 1
$165 per animal
Labrador Retriever Health Panel 2
$180 per animal
Weimaraner Health Panel
$105 per animal
Hyperuricosuria (HUU) means elevated levels of uric acid in the urine. This trait predisposes dogs to form stones in their bladders or sometimes kidneys. These stones often must be removed surgically and can be difficult to treat. HUU is inherited as a simple autosomal recessive defect. A mutation in exon 5 of the gene Solute carrier family 2, member 9 (SLC2A9) has been found to be associated with hyperuricosuria in dogs. HUU can occur in any breed but is most commonly found in the Dalmatian, Bulldog, and Black Russian Terrier.
A DNA test for the SLC2A9 mutation can determine the genetic status of dogs for HUU. Dogs that carry two copies of the mutation will be affected and susceptible to develop bladder/kidney stones. However, the SCL2A9 mutation is not the sole cause of urate bladder stones in dogs. Other factors, in addition to genetic test results, such as liver disease and diet need also be considered in clinical evaluation.
Species
Breed
| Test Result | Hyperuricosuria |
|---|---|
| N/N | No copies of hyperuricosuria mutation detected. Dog is normal. |
| N/HU | 1 copy of hyperuricosuria mutation is detected. Dog is a carrier and unaffected. If bred to another carrier, 25% of offspring are predicted to be affected. |
| HU/HU | 2 copies of hyperuricosuria mutation detected. Dog is affected and susceptible to develop bladder/kidney stones. |
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), e1000246. doi: 10.1371/journal.pgen.1000246
Karmi, N., Safra, N., Young, A., & Bannasch, D. L. (2010). Validation of a urine test and characterization of the putative genetic mutation for hyperuricosuria in Bulldogs and Black Russian Terriers. American Journal of Veterinary Research, 71(8), 909-914. doi: 10.2460/ajvr.71.8.909
Karmi, N., Brown, E. A., Hughes, S. S., McLaughlin, B., Mellersh, C. S., Biourge, V., & Bannasch, D. L. (2010). Estimated frequency of the canine hyperuricosuria mutation in different dog breeds. Journal of Veterinary Internal Medicine, 24(6), 1337-1342. doi: 10.1111/j.1939-1676.2010.0631.x
