Xanthinuria
Also known as: Xanthine urolithiasis · Xanthine stone disease · Hereditary xanthinuria · Xanthinurie · Xanthine oxidase deficiency
Overview
What it is
Xanthinuria is an inherited metabolic disorder of the urinary system where an enzyme deficiency prevents the normal breakdown of purines, which are natural compounds found in food. Because of this, a poorly soluble substance called xanthine accumulates in the urine and forms crystals or stones in the bladder and kidneys. If left unchecked, these stones can cause painful blockages in the urinary tract.
How it presents
Owners typically notice signs of urinary distress, such as blood in the urine, straining or pain during urination, and recurrent urinary tract infections, which usually begin to appear in young adulthood.
Treatment
The condition is lifelong and incurable, but it can be managed with a strict low-purine diet and high fluid intake to prevent stone formation. If a urinary blockage occurs, surgical intervention may be necessary, with lifetime management and treatment costs typically ranging from €1,000 to €5,000.
How it's tested
Xanthinurie DNA-Test(XAN)
Primary testDNA testDer DNA-Test identifiziert Mutationen in den Genen XDH oder MOCOS, welche für den Purinstoffwechsel verantwortlich sind, um das Risiko für Xanthin-Harnsteine nachzuweisen.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Xanthinuria?
Xanthinuria is an inherited metabolic disorder of the urinary system where an enzyme deficiency prevents the normal breakdown of purines, which are natural compounds found in food. Because of this, a poorly soluble substance called xanthine accumulates in the urine and forms crystals or stones in the bladder and kidneys. If left unchecked, these stones can cause painful blockages in the urinary tract.
How is Xanthinuria tested?
Tests currently in our database: Xanthinurie DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.