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Hyperuricosuria
Test Overview:
Dogs with variations in both copies of the SLC2A9 gene(variant) are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the Urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy.
Category:
Urinary system / Urologic - Associated with the kidneys, bladder, ureters and urethra
Gene:
Solute carrier family 2 member 9 (SLC2A9) on chromosome 3
Variant Detected:
Base Substitution c.563G>T p.Cys188Phe
Severity:
Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
Bannasch D, et al. Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog. (2008), PLOS genet, 4;11,e1000246
Bannasch, D., Young, A., Myers, J., Truve, K., Dickinson, P., Gregg, J., Davis, R., Bongcam-Rudloff, E., Webster, M.T., Lindblad-Toh, K., Pedersen, N. : Localization of canine brachycephaly using an across breed mapping approach. PLoS One 5:e9632, 2010. Pubmed reference: 20224736. DOI: 10.1371/journal.pone.0009632.
Associated Breed(s):
American Bulldog , American Bully , American Pit Bull Terrier, Anatolian Shepherd, Australian Bulldog, Australian Cattle Dog, Australian Cobberdog, Australian Labradoodle , Australian Shepherd, Black Russian Terrier , Boerboel, Boston Bulldog, British Bulldog, Dalmatian, Finnish Lapphund, French Bulldog, German Shepherd Dog, Giant Schnauzer, Goldendoodle, Groodle, Harlequin Pinscher, Hungarian Vizsla, Jack Russell Terrier, Koolie , Labradoodle , Labradoodle Retrodoodle , Labrador Retriever, Lagotto Romagnolo, Large Munsterlander, Miniature American Shepherd, Mixed Breed, Parson Russell Terrier, Pomeranian, Short Bully, Shortybull, Swedish Vallhund, Weimaraner, Weimaraner Long Hair , White Swiss Shepherd,
