Hereditary xanthinuria

This code describes a rare, inherited metabolic disorder characterized by a deficiency in the enzyme xanthine oxidase, leading to the accumulation of xanthine in the blood and urine. This accumulation can result in the formation of xanthine stones in the urinary tract, causing renal colic, hematuria, and potential renal damage.

Assign this code for patients diagnosed with hereditary xanthinuria, confirmed by biochemical testing showing elevated xanthine levels and deficient xanthine oxidase activity. Documentation should clearly indicate the genetic or inherited nature of the xanthinuria, distinguishing it from acquired forms.

• Differentiate from acquired xanthinuria, which would be coded differently if a specific cause is identified.
• Always review documentation for genetic testing results or family history confirming the hereditary nature.
• Consider coding associated conditions such as nephrolithiasis (N20.0) or renal failure (N18.-) as secondary diagnoses.