Xanthinuria Type II (Variant 2)

Hereditary xanthinuria is a disease caused by excessive xanthine in the urine that can precipitate in the form of microscopic xanthine crystals which leads to the formation of urinary stones and secondary renal injury. This condition can be both congenital and acquired (drug-induced; allopurinol). Clinical signs typically include urinary incontinence, frequent urination in small amounts, affected dogs also strain to urinate and can experience blood in urine. Due to excessive amounts of xanthines, xanthine uroliths (stones) form in the bladder that may need to be surgically removed. Mentioned signs can develop at any age from around 7 weeks onwards. Xanthine is a metabolic by-product of purine metabolism, therefore, to reduce the risk of stone formation, it is recommended that affected dogs consume a low purine food diet and increase daily water intake to avoid further complications such as kidney disease.

Inheritance: autosomal recessive

Mutation: MOCOS gene

Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.