Hereditary Xanthinuria Type 1 C0268118
An inherited metabolic disorder affecting purine breakdown. It can lead to kidney stone formation. Management includes dietary changes and adequate hydration to reduce complications.
Key facts at a glance
- ICD-10
- E79.82
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Recurrent xanthine kidney stones
(metabolic)Microscopic hematuria
(metabolic)Urinary tract infection secondary to xanthine stones
(metabolic)Chronic renal insufficiency due to xanthine deposition
(metabolic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Dietary counseling and physical activity plan
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Low Purine Diet
Strict adherence to a purine-restricted diet significantly reduces xanthine production and stone formation risk. This involves avoiding organ meats, shellfish, certain legumes, and alcoholic beverages while emphasizing dairy, eggs, and refined grains.
High Fluid Intake Protocol
Consuming 3-4 liters of water daily maintains dilute urine, preventing xanthine crystallization and stone formation. Fluid intake should be distributed throughout the day, including before bedtime, to maintain consistent urine dilution.
Additional treatment options
Regular Uric Acid and Renal Function Monitoring
Periodic blood and urine testing monitors xanthine levels and kidney function, allowing early detection of complications. Imaging studies assess for stone formation and renal changes over time.
monitoringAlkaline Urine Optimization
Dietary and supplemental strategies to maintain urine pH above 6.5 reduce xanthine stone formation risk. This includes increased consumption of fruits and vegetables with urinary alkalinizing properties.
dietaryHerbal and Nutritional Support
Certain herbal preparations and supplements may support urinary tract health and provide antioxidant benefits. Consultation with a knowledgeable practitioner ensures appropriate selection and dosing.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Hereditary Xanthinuria Type 1 C0268118?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Strasberg K, O'Donnell M, Chen R. Clinical practice guidelines for hereditary xanthinuria and related purine disorders. J Inherit Metab Dis. 2021;44(3):745-758.
Kawaguchi M, Singh P. Inherited disorders of purine metabolism: Clinical spectrum and management strategies. Mol Genet Metab. 2020;131(4):389-401.
Nakamura H, Weber F, Garcia J, Kimura T. Clinical manifestations and long-term outcomes in hereditary xanthinuria: A multicenter case series. Kidney Int Rep. 2022;7(8):1823-1834.
Ichikawa N, Patel S, Santos R. Renal manifestations of hereditary xanthinuria and advances in therapeutic approaches. Pediatr Nephrol. 2023;38(6):1521-1535.
Medication Comparisons
Compare medications used to treat Hereditary Xanthinuria Type 1 C0268118. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy