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Hyperuricosuria

Hyperuricosuria is an inherited condition in dogs that leads to the formation of urinary stones due to elevated levels of uric acid in the urine, causing frequent urinary issues and potential blockages.

Affected Genes: SLC2A9

Inheritance: Autosomal Recessive

Variant(canFam6):
chr3:72008918: G>T

Breed: Airedale Terrier
American Bulldog
American Bully
American Pit Bull Terrier
American Staffordshire Terrier
Aussiedoodle
Australian Koolie
Australian Labradoodle*
Australian Shepherd
Australian Working Kelpie
Belgian Malinois
Belgian Sheepdog
Belgian Shepherd
Belgian Tervuren
Biewer
Black Russian Terrier
Border Collie
Bordoodle
Bulldog
Carolina Dog
Collie
Dalmatian
Danish-Swedish Farmdog
Deutsch Kurzhaar
Drentsche Patrijshond
Dutch Partridge Dog
English Shepherd
Finnish Lapphund
French Bulldog
German Hunting Terrier
German Shepherd Dog
German Shorthaired Pointer
Giant Schnauzer
Greater Swiss Mountain Dog
Groenendael
Jack Russell Terrier
Jagdterrier
Koolie
Kromfohrländer
Labradoodle*
Labrador Retriever
Laekenois
Lagotto Romagnolo
Large Munsterlander
Mastiff
Miniature American Shepherd
Miniature Australian Shepherd
Old-Time Scotch Collie
Parson Russell Terrier
Pomeranian
Pomsky
Rough Collie
Russell Terrier
Scottish Collie
Shiloh Shepherd
Smooth Collie
South African Boerboel
Spaniel de Pont-Audemer
Spanish Water Dog
Swedish Vallhund
Toy Australian Shepherd
UK Breed Council Labrador Retriever
Vizsla
Weimaraner
White Shepherd Dog
Wirehaired Vizsla
Yorkiepoo
Yorkshire Terrier

General Information: Hyperuricosuria is a genetic urinary condition affecting numerous dog breeds, including Airedale Terriers, French Bulldogs, German Shepherds, and Labrador Retrievers. This disorder is caused by mutations in the SLC2A9 gene, which encodes a protein responsible for transporting uric acid from the urine. Dogs with mutations in both copies of this gene cannot effectively reabsorb uric acid, leading to high concentrations in the urine. This excess uric acid can form crystals and stones (uroliths) in the urinary tract, leading to symptoms such as frequent urination, blood in the urine, straining to urinate, loss of appetite, lethargy, vomiting, and pain. Male dogs are more susceptible to urinary obstructions due to anatomical differences, though both males and females can be affected. If left untreated, hyperuricosuria can lead to recurrent urinary tract infections, kidney failure, and potentially fatal urinary blockages. Early diagnosis and management, including dietary modifications and regular veterinary monitoring, are essential to prevent severe complications and ensure the health and well-being of affected dogs.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the SLC2A9 gene is crucial for identifying carriers of the mutation responsible for Hyperuricosuria in dogs. This condition is inherited in an autosomal recessive manner, meaning that a dog must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carrier dogs, which have only one copy of the mutation, typically do not exhibit symptoms but can pass the gene to their offspring. When two carriers are bred, each puppy has a 25% chance of developing hyperuricosuria and a 50% chance of being a carrier. Reliable genetic testing is vital for responsible breeding practices to avoid mating two carriers, thereby reducing the risk of producing puppies with hyperuricosuria. By identifying carriers and making informed breeding decisions, breeders can help eliminate this condition from dog populations, promoting healthier and more robust future generations. It is important to note that while genetic testing for the SLC2A9 mutation can reduce the risk of hyperuricosuria, other genetic or environmental factors may still contribute to similar urinary conditions, necessitating comprehensive genetic screening and careful management.

References:
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. 2008 4(11):e1000246.

Cosgrove L, Hammond G, Mclauchlan G. PRIMARY portal vein hypoplasia AND SLC2A9 mutation associated WITH urate urolithiasis IN a Spanish water dog. Can Vet J. 2015 56(11):1153-1157.

Donner J, Kaukonen M, Anderson H, Moller F, Kyostila K, Sankari S, Hytonen M, Giger U, Lohi H. Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One 2016 11(8):e0161005.

Karmi N, Brown EA, Hughes SS, McLaughlin B, Mellersh CS, Biourge V, Bannasch DL. Estimated frequency of the canine hyperuricosuria mutation in different dog breeds. J Vet Intern Med. 2010 24(6):1337-1342.

Karmi N, Safra N, Young A, Bannasch DL. Validation of a urine test and characterization of the putative genetic mutation for hyperuricosuria in Bulldogs and Black Russian Terriers. Am J Vet Res. 2010 71(8):909-914.