Hereditary Xanthinuria, Xanthinuria Type I

Affected dogs may strain to urinate, urinate small amounts frequently, have blood in their urine, or be unable to urinate at all (a medical emergency).

Signs typically develop in early life, although dogs can be diagnosed at any age. Most dogs have been diagnosed with this condition by five years of age.

A veterinarian may use a combination of diagnostic tests, including blood work, urinalysis, ultrasound, and stone analysis.

If the affected dog has xanthine stones in the bladder, they may need to be surgically removed. Prescription diets are typically required for lifelong care and to prevent further stones from forming.

Talk to your vet about your dog’s hereditary xanthinuria result so you can discuss appropriate monitoring and dietary management.

Feed a diet that supports urinary health, following your vet’s recommendations to help reduce the risk of stone formation.

Make sure your dog always has access to fresh water and encourage frequent urination to help flush the urinary tract.

Watch for signs such as straining to urinate, blood in the urine, or changes in bathroom habits, and contact your vet if you notice them.

This variant was first described in a mixed-breed dog.

Penetrance: This variant is inherited in an autosomal recessive manner, meaning that a dog requires two copies of the variant to show signs of hereditary xanthinuria.

Gene

XDH Exon 8

Inheritance type

recessive

Clinical category

Urinary

Citations

1. Tate et al 2021

• Mixed