Xanthinuria (Discovered in the Cavalier King Charles Spaniel)

Xanthinuria can cause formation of stones throughout the upper and lower urinary tracts, including the urethra, bladder, ureters, and kidneys. These stones can result in pain, bloody urine, infection and blockage of the urinary tract.

Found in

1 in 5,000 dogs

in our testing

Key Signs

Difficulties when passing urine, Pain when passing urine, Inflammation in bladder, Hematuria, Kidney failure

Age of Onset

0 to 2 yrs

Juvenile onset

Inheritance

Autosomal Recessive

For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.

Likelihood of the Condition

Moderate-high likelihood

At risk dogs are likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a dog with Xanthinuria

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about Xanthinuria

This disorder can cause formation of stones throughout the upper and lower urinary tracts, including the urethra, bladder, ureters, and kidneys. Clinical signs of urolithiasis in the lower urinary tract include pain while urinating, bloody urine, and blockage of the urinary tract. Patients with urinary stones are more susceptible to urinary tract infections. Blockage of the ureters and kidneys causes abdominal pain and kidney failure. A blocked urinary tract is a life-threatening condition that requires immediate veterinary care. The disorder can develop at any age, starting as early as when a pup is a few months of age. Males are more likely to form clinically relevant stones than females. Urine sampling and ultrasound examinations are used for diagnostics. These stones are radiolucent and thus not clearly visible on radiographs.

Management of the disease consists of increasing water intake, limiting purine intake, and keeping the urine alkaline. Special low-purine diets are available. Affected dogs must be carefully monitored and follow-up visits are needed. A blocked urinary tract is a life-threatening condition that usually requires surgical treatment.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to develop. A carrier dog with one copy of the Xanthinuria mutation can be safely bred with a clear dog with no copies of the Xanthinuria mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the Xanthinuria mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the Xanthinuria mutation could develop due to a different genetic or clinical cause.

Technical Details

Technical details are not available at this moment.

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