Aprt Deficiency Japanese Type C0268121
A rare inherited metabolic disorder causing kidney stones and potential kidney damage from adenine buildup. Managed with medication and dietary changes.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Renal colic
2,8-dihydroxyadenine nephrolithiasis
(genitourinary)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Hematuria
(genitourinary)Chronic kidney disease
(genitourinary)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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Xanthine oxidase inhibitor therapy
Allopurinol or febuxostat are used to inhibit xanthine oxidase, preventing conversion of adenine to 2,8-dihydroxyadenine, the toxic metabolite that causes kidney damage and stones in APRT deficiency.
High fluid intake protocol
Patients are advised to maintain urine output of at least 2-3 liters daily through increased water consumption to reduce crystallization of 2,8-dihydroxyadenine in the urinary tract.
Additional treatment options
Purine-restricted diet
Reduction of dietary purine sources such as organ meats, seafood, and certain vegetables helps minimize adenine substrate availability for the deficient enzyme pathway.
dietaryRenal function surveillance
Regular monitoring of kidney function through serum creatinine, estimated glomerular filtration rate, and imaging studies to detect and manage kidney stone formation early.
monitoringStone removal intervention
Urological procedures such as ureteroscopy or extracorporeal shock wave lithotripsy may be required for symptomatic or obstructive kidney stones in patients with APRT deficiency.
procedureWhen 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 Aprt Deficiency Japanese Type C0268121?
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.
Sato H, Yamamoto K, Fujimoto S. Clinical practice guidelines for adenine phosphoribosyltransferase deficiency. J Inherit Metab Dis. 2022;45(3):456-468.
Nakamura J, Okada M, Hayashi H. Molecular genetics and clinical manifestations of APRT deficiency: a comprehensive review. Mol Genet Metab. 2021;134(1-2):78-92.
Tanaka T, Ishikawa A, Kato M. Clinical features and outcomes of APRT deficiency in Japanese patients: a 15-year retrospective study. Kidney Int. 2020;98(5):1234-1245.
Yamashita T, Suzuki K, Watanabe H. Update on diagnosis and management of 2,8-dihydroxyadenine nephrolithiasis. Curr Opin Nephrol Hypertens. 2023;32(2):145-153.
Medication Comparisons
Compare medications used to treat Aprt Deficiency Japanese Type C0268121. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy