Primary xanthinuria [2 genes]

Xanthinuria is an autosomal recessive disease that is caused by either xanthine dehydrogenase deficiency (xanthinuria type I) or xanthine dehydrogenase and aldehyde oxidase deficiency (xanthinuria type II).
Xanthinuria type I is caused by XDH gene mutations. This gene encodes xanthine dehydrogenase, which carries out the final stages of purine metabolism (conversion of hypoxanthine to xanthine and xanthine to uric acid). It is characterized by low concentrations of uric acid in blood and urine and high concentrations of xanthine in urine, which produces urolithiasis. Xanthinuria type II is due to mutations in the MOCOS gene, which codes for molybdenum cofactor sulfarase. Patients present hematuria, kidney stones, urolithiasis, or even acute kidney failure.

Unknown

• Genetic diagnosis
• Genetic counseling
• Low purine diet
• Abundant liquid intake
• Pyelolithotomy in case of kidney stones

The identification of genetic variants causing primary xanthinuria allows for a precise molecular diagnosis that provides the information necessary to perform genetic counseling, direct patient management, and offers predictive value to carrier patients.

This panel is indicated when primary Xanthinuria syndrome is suspected, which may include the following clinical characteristics:

• Abdominal pain
• Recurrent urinary tract infections
• Low uric acid in serum and urine
• Urolithiasis
• Hematuria
• Kidney colic
• Acute kidney failure