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Hyperuricosuria

Hyperuricosuria

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Test Overview:

Why This Matters to Breeders and Vets Inheritance pattern: Hyperuricosuria is an autosomal recessive condition—only dogs inheriting two copies of the variant will be affected. Breeding decisions: Carriers (one copy) are asymptomatic but can pass the variant to their offspring. Responsible breeding uses DNA testing to avoid producing affected litters while maintaining genetic diversity. Lifelong management: Diet modification, increased water intake, and regular monitoring are required to help prevent stone formation and recurrence. Summary of Hyperuricosuria - Hyperuricosuria is a genetically determined, pathogenic condition linked to the SLC2A9 gene. It predisposes affected dogs to urate crystal and urolith formation, leading to recurrent urinary issues, possible life-threatening obstructions, and the need for lifelong management. Early veterinary diagnosis through genetic and clinical testing, combined with informed breeding practices, is key to reducing its impact within susceptible breeds. Pathophysiology When excess uric acid is present in the urine, it can precipitate and form urate crystals. Over time, these crystals may aggregate to form urate uroliths (stones) within the urinary tract. These stones can affect the bladder, urethra, and occasionally the kidneys. Complications Urinary stones located in the bladder can cause: •Chronic urinary tract infections •Urethral obstruction, particularly in male dogs Urethral obstruction is a veterinary emergency. If untreated, it can result in bladder rupture, irreversible kidney damage, or death. Male dogs are at greater risk due to their longer and narrower urethra, which is more easily blocked by even small stones or crystalline plugs. Why This Matters to Breeders and Vets •Inheritance pattern: Hyperuricosuria is an autosomal recessive condition—only dogs inheriting two copies of the variant will be affected. •Breeding decisions: Carriers (one copy) are asymptomatic but can pass the variant to their offspring. Responsible breeding uses DNA testing to avoid producing affected litters while maintaining genetic diversity. •Lifelong management: Diet modification, increased water intake, and regular monitoring are required to help prevent stone formation and recurrence. Summary of Hyperuricosuria Hyperuricosuria is a genetically determined, pathogenic condition linked to the SLC2A9 gene. It predisposes affected dogs to urate crystal and urolith formation, leading to recurrent urinary issues, possible life-threatening obstructions, and the need for lifelong management. Early veterinary diagnosis through genetic and clinical testing, combined with informed breeding practices, is key to reducing its impact within susceptible breeds.

Category:

Urinary system / Urologic - Associated with the kidneys, bladder, ureters and urethra

Gene:

SLC2A9

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

Recommended Screening:

Genetic testing of the SLC2A9 gene will reliably determine if a dog is a genetic carrier for Hyperuricosuria.

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 (Micro/Pocket/Classic/XL), 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,

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