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Hyperuricosuria

Description

Genetic Basis of Hyperuricosuria - Dogs that inherit variants in both copies (homozygous) of the SLC2A9 gene develop a hereditary condition known as hyperuricosuria. This pathogenic variant disrupts the normal metabolic pathway that converts uric acid into the more soluble compound allantoin. As a result, affected dogs excrete abnormally high levels of uric acid in their urine.

Pathophysiology - When excess uric acid is present in the urine, it can precipitate and form urate crystals. Over time, these crystals may aggregate to form urate uroliths (stones) within the urinary tract. These stones can affect the bladder, urethra, and occasionally the kidneys.

Complications - Urinary stones located in the bladder can cause:

Chronic urinary tract infections
CUrethral obstruction, particularly in male dogs

Urethral obstruction is a veterinary emergency. If untreated, it can result in bladder rupture, irreversible kidney damage, or death. Male dogs are at greater risk due to their longer and narrower urethra, which is more easily blocked by even small stones or crystalline plugs.

Recommended Breeding

Diseases

Hyperuricosuria

$ 50.00

Associated Breed(s):

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Labels:

Variant of uncertain significance (VUS)

Not to be used in clinical decision‑making, for breeding programs or screening. Efforts to resolve the classification of the variant as pathogenic or benign should be undertaken.

Category:

Urinary system / Urologic - Associated with the kidneys, bladder, ureters and urethra

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Gene:

SLC2A9

Variant Detected:

Base Substitution c.563G>T p.Cys188Phe

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

Click to View Full OMIA Reference