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General
Disease Name
Hyperuricosuria and Hyperuricemia (HUU)
Mutation
c.616G>T
Mutation 2
c.G563T
Test Type
Genetic Disease/Disorder
Details
Hyperuricosuria (HUU) describes elevated levels of uric acid in the urine causing the formation of calculi (stones) in the urinary tract. These stones form in the bladders or sometimes kidneys, requiring surgical removal, and can be difficult to treat. HUU can occur in any breed but is most commonly associated with the Dalmatian, as Dalmatians are homozygous for HUU (HU/HU). Outcrossing programs have introduced ?low uric acid? dogs, derived from Dalmatian x Pointer backcrosses, into the purebred gene pool, providing a means for breeders to reduce incidence of the disease and maintain the breed characteristics. This mutation is not the sole cause of urate bladder stones in dogs, so may not account for other causes of stones, such as liver disease and diet.
Details 2
Hyperuricosuria (HUU) describes elevated levels of uric acid in the urine, resulting in urolithiasis, the formation of calculi (stones) in the urinary tract. These stones form in their bladders or sometimes kidneys, requiring surgical removal. These stones can be difficult to treat. HUU can occur in any breed but is most commonly associated with the Dalmatian, as Dalmatians are homozygous for HUU (HU/HU). Outcrossing programs have introduced ?low uric acid? dogs, derived from Dalmatian x Pointer backcrosses, into the purebred gene pool, providing a means for breeders to reduce incidence of the disease and maintain the breed characteristics. This mutation is not the sole cause of urate bladder stones in dogs, so may not account for other causes of stones, such as liver disease and diet.
Published
Bannasch, D., Safra, N., Young, A., Karmi, N., Schaible, RS., Ling, GV. : Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog. PLoS Genet 4:e1000246, 2008. Pubmed reference: 18989453. DOI: 10.1371/journal.pgen.1000246.
