Hyperuricosuria (HUU)

 

Gene: SLC2A9

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution, SLC2A9 gene; c.616 G>T, exon5

Medical system: Renal

Breeds: Airedale Terrier, Akita, American Bulldog, American Cocker Spaniel, American Pit Bull Terrier, American Staffordshire Terrier/Amstaff, Anatolian Shepherd Dog, Australian Shepherd, Basset Fauve de Bretagne, Beagle, Belgian Malinois, Black Russian Terrier, Boerboel, Border Collie, Boston Terrier, Boxer, Bull Terrier, Cane Corso, Catahoula Leopard Dog, Chihuahua, Collie, Collie - Rough, Collie - Smooth, Dalmatian, Danish Swedish Farmdog, Doberman Pinscher, Dogo Argentino, Drentsche Patrijshond Dutch Partridge Dog, English Bulldog, English Setter, English Shepherd, Finnish Lapphund, French Bulldog, German Shepherd, German Shorthaired Pointer, German Wirehaired Pointer, Golden Retriever, Great Pyrenees, Greater Swiss Mountain Dog, Jack Russell Terrier, Jagdterrier/German Hunting Terrier, Koolie, Kromfohrlander, Labrador Retriever, Lacy Dog, Lagotto Romagnolo, Large Munsterlander, Maltese Terrier, Maremmano Sheepdog, Mastiff (Old English), Miniature American Shepherd, Miniature Australian Shepherd, Parson Russell Terrier, Pomeranian, Presa Canario, Russell Terrier, Saint-Bernard, Schapendoes, Schnauzer - Giant, Schnauzer - Miniature, Shar Pei, Shiloh Shepherd, Siberian Husky, Small Munsterlander, Spanish Water Dog, Staffordshire Bull Terrier, Swedish Vallhund, Tibetan Terrier, Toy Australian Shepherd, Treeing Walker Coonhound, Weimaraner, White Swiss Shepherd, Wirehaired Vizsla

Age of onset of symptoms:  On average at the age of 9

Hyperuricosuria is a genetic disease of the urinary system that affects the kidney’s ability to reabsorb uric acid from urine.  High concentrations of uric acid can form crystals or stones within the urinary tract, resulting in recurrent urinary tract infections, frequent and painful urination, and urine that contains blood.  Loss of appetite, lethargy and vomiting can be associated with the urinary tract infections.  Hyperuricosuria is more severe and more common in males, and urinary stones can cause a urinary obstruction that puts the animal’s life at risk.

 

References:

Labgenvet blog

OMIA link: [1033-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Paulin MV, Dunn M, Vachon C, et al. (2021) Association between hyperlipidemia and calcium oxalate lower urinary tract uroliths in dogs. J Vet Intern Med 36:146-155.  [pubmed/34854133]

Alford A, Furrow E, Borofsky M, Lulich J. (2020) Animal models of naturally occurring stone disease. Nat Rev Urol 17:691-705. [pubmed/33159170]

Zierath S, Hughes AM, Fretwell N, Dibley M, Ekenstedt KJ. (2017) Frequency of five disease-causing genetic mutations in a large mixed-breed dog population (2011-2012).  PLoS One 12(11):e0188543.  [pubmed/29166669]

Westropp JL, Larsen JA, Johnson EG, et al. (2017) Evaluation of Dogs With Genetic Hyperuricosuria and Urate Urolithiasis Consuming a Purine Restricted Diet: A Pilot Study. BMC Vet Res. 13(1):45. [pubmed/28178975]

Karmi N, Safra N, Young A, Bannasch DL. (2012) Validation of a urine test and characterization of the putative genetic mutation for hyperuricosuria in Bulldogs and Black Russian Terriers. Am J Vet Res. 71(8):909-14. [pubmed/20673090]

Karmi N, Brown EA, Hughes B. (2010) Estimated frequency of the canine hyperuricosuria mutation in different dog breeds. J Vet Intern Med 24:1337-1342. [pubmed/21054540]

Bannasch D, Safra N, Young A, et al. (2008) Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog. PLoS Genetics 4(11):e1000246. [pubmed/18989453]