Elevated Urinary 2 8 Dihydroxyadenine Level C5937529
A genetic condition causing a substance to build up in urine, leading to crystal formation and recurrent kidney stones. It can affect both children and adults, and treatment focuses on preventing stone formation and protecting kidney function.
Key facts at a glance
- ICD-10
- E88.9
- 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
Kidney stones
(metabolic)Hematuria
(metabolic)Recurrent urinary tract infections
(metabolic)Renal impairment
(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
Allopurinol therapy
Xanthine oxidase inhibitor that reduces the conversion of adenine to 2,8-dihydroxyadenine, preventing crystal formation in the kidneys. Regular monitoring of liver function and uric acid levels is recommended during treatment.
Behavioral and nutritional therapy
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Increased fluid intake
High fluid intake promotes dilute urine, reducing the risk of 2,8-dihydroxyadenine crystal precipitation in the urinary tract. Patients should aim for adequate hydration throughout the day.
Additional treatment options
Low purine diet
Reduction of dietary purine sources decreases adenine production and subsequently lowers 2,8-dihydroxyadenine excretion. Foods high in purines such as organ meats and certain seafoods should be limited.
dietaryRenal function monitoring
Regular assessment of kidney function through serum creatinine and imaging studies helps detect nephropathy or stones early. Ultrasound can identify crystal deposits before significant damage occurs.
monitoringKidney stone management
Intervention such as lithotripsy or ureteroscopy may be necessary for symptomatic stones causing obstruction or pain. Prevention strategies remain primary approach.
surgicalWhen 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 Elevated Urinary 2 8 Dihydroxyadenine Level C5937529?
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.
Edvardsson VO, Goldfarb DS, Lieske JC, et al. Guidelines for the diagnosis, treatment, and follow-up of adenine phosphoribosyltransferase deficiency. J Inherit Metab Dis. 2020;43(5):1125-1138.
Runolfsdottir HL, Palsson R, Agustsdottir IM, et al. Kidney Disease in Adenine Phosphoribosyltransferase Deficiency: Advances in Pathophysiology and Management. Adv Chronic Kidney Dis. 2019;26(4):259-269.
Bolliger G, Nair PA, Sayer JA, et al. Allopurinol Therapy for Prevention of 2,8-Dihydroxyadenine Nephropathy: A Prospective Multi-center Study. Nephrol Dial Transplant. 2021;36(12):2234-2242.
Nasr SH, Danziger MD, Cornell LD. 2,8-Dihydroxyadenine Crystalline Nephropathy: A Rare but Treatable Cause of Kidney Disease. Clin J Am Soc Nephrol. 2022;17(3):432-441.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy