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Urolithiasis (Native American Indian Dog Type)

Urolithiasis (Native American Indian Dog Type) is an inherited condition causing urinary stones due to elevated levels of 2,8-dihydroxyadenine in dogs.

Affected Genes: APRT

Inheritance: Autosomal Recessive

Variant(canFam6):
chr5:64576095: G>A

Breed: Native American Indian Dog
North American Indian Dog

General Information: Urolithiasis (Native American Indian Dog Type) is an inherited disorder in dogs where elevated levels of the insoluble compound 2,8-dihydroxyadenine (2,8-DHA) in the urine lead to the formation of urinary stones. Dogs with two copies of the associated APRT gene mutation are predisposed to this condition, which can manifest at any age. Symptoms include frequent urination, blood in the urine, straining to urinate, loss of appetite, lethargy, weakness, vomiting, and pain. Urinary stones can cause urinary tract infections or blockages, particularly in males due to anatomical differences, potentially leading to serious kidney damage. While not all dogs with the mutation will show symptoms, they will excrete increased 2,8-DHA in their urine, and feeding a specialized diet may help prevent stone formation.

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 of the APRT gene can determine if a dog is a carrier of Urolithiasis (Native American Indian Dog Type). This condition is inherited in an Autosomal Recessive manner, meaning that dogs must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carrier dogs, possessing only one copy of the mutation, typically do not show symptoms but can pass the gene to their offspring. When two carriers are bred, each pup has a 25% chance of developing the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for informed breeding practices to eliminate this mutation from breeding lines, and breeding two carriers together is not recommended to avoid producing affected pups. Dogs that are not carriers have no increased risk of having affected offspring.

References:
Furrow E, Pfeifer RJ, Osborne CA, Lulich JP. An APRT mutation is strongly associated with and likely causative for 2,8- dihydroxyadenine urolithiasis in dogs. Mol Genet Metab. 2014 111(3):399-403.