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PubMed This is a summary of 13 peer-reviewed journal articles Updated
Nephrology

Protecting Your Kidneys Long-Term: Survivorship and Monitoring

At a Glance

Long-term management of APRT deficiency requires lifelong adherence to XOR inhibitors and regular urine tests to check for 2,8-DHA crystals. If getting a kidney transplant, patients must carefully manage severe interactions between their APRT medications and anti-rejection drugs.

Because APRT deficiency is a lifelong metabolic condition, the goal of care shifts from “finding a diagnosis” to “protecting kidney health” for the long term [1]. With consistent medication and monitoring, many patients live full, healthy lives without further stone formation or kidney decline [2][3].

The Pillars of Long-Term Monitoring

Monitoring is not just about checking for new stones; it is about ensuring the crystals stay away entirely. Even without a painful stone, microscopic crystals can cause “silent” scarring that leads to chronic kidney disease (CKD) [1][4].

  1. Urine Microscopy (The “Crystal Check”): This is your most important monitoring tool. You should have regular exams of “fresh” urine to confirm the total disappearance of 2,8-DHA crystals [5][6]. If crystals reappear, it is a signal that your medication dose needs to be adjusted [5][7].
  2. Blood Tests: Regular checks of serum creatinine and estimated glomerular filtration rate (eGFR) are necessary to track how well your kidneys are filtering waste [1][4].
  3. Surveillance Schedule: While every patient is different, a typical schedule for stable patients often includes:
    • Every 3–6 Months: Blood tests (creatinine/eGFR) and fresh urine microscopy [5][6].
    • Annually: Renal ultrasound or other imaging to check for “silent” stones [1].

Managing End-Stage Renal Disease (ESRD)

If APRT deficiency was diagnosed late and has already led to kidney failure, you may require dialysis or a kidney transplant [4][8].

  • During Dialysis: It is often still necessary to take your xanthine oxidoreductase (XOR) inhibitor (allopurinol or febuxostat). This prevents the total buildup of adenine in the body and protects any remaining kidney function you may have [9][10].

The “Must-Know” for Kidney Transplants

A kidney transplant can be a life-changing success for patients with APRT deficiency, but it requires a very specific protocol to protect the new kidney (allograft) [9][11].

1. The Risk of Rapid Recurrence:
Without medication, 2,8-DHA crystals can begin forming in the new kidney almost immediately after surgery [12]. This can lead to rapid graft failure, where the new kidney is damaged by the same process that affected the original ones [9][12]. To prevent this, you must be on an XOR inhibitor before, during, and immediately after the transplant surgery [9][11].

2. CRITICAL SAFETY WARNING (Drug Interactions):
XOR inhibitors (allopurinol and febuxostat) have severe, potentially fatal interactions with common transplant immunosuppressants (anti-rejection drugs), particularly azathioprine. Combining these drugs can cause dangerous bone marrow suppression. You must ensure your entire transplant team is explicitly aware of your APRT medications so they can safely choose, adjust, or avoid certain immunosuppressants.

The Outlook

The long-term outlook for APRT deficiency is excellent for those who remain strictly adherent to their therapy [5]. By keeping your “crystal check” appointments, navigating transplant interactions carefully, and never skipping your daily medication, you are taking the most powerful steps possible to preserve your kidney health for decades to come [13][7][3].

Common questions in this guide

Why do I need regular urine tests for APRT deficiency if I feel fine?
Regular fresh urine microscopy is the most important tool to check for microscopic 2,8-DHA crystals. Even if you don't feel any painful kidney stones, these silent crystals can still cause scarring and lead to chronic kidney disease if not properly managed.
Do I still need to take my medication if I am on dialysis?
Yes, you usually still need to take an XOR inhibitor like allopurinol or febuxostat while on dialysis. Continuing your medication prevents adenine buildup in your body and protects any remaining kidney function you may have.
Can I get a kidney transplant if my kidneys fail from APRT deficiency?
Yes, a kidney transplant can be a life-changing success. However, you must take your XOR inhibitor medication before, during, and immediately after the surgery to prevent crystals from rapidly forming and damaging the new kidney.
Are there drug interactions between APRT deficiency medication and transplant drugs?
XOR inhibitors have severe and potentially fatal interactions with common anti-rejection medications, particularly azathioprine. It is critical that your entire transplant team is explicitly aware of your APRT medications to safely adjust your drug regimen.
How often should my kidney health be checked?
While every patient is different, a typical schedule for stable patients includes blood and fresh urine tests every 3 to 6 months. An annual kidney ultrasound or other imaging is also commonly recommended to check for silent stones.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What is our exact plan for my medication during the days immediately before and after my kidney transplant surgery?
  2. 2.How will we communicate with my transplant team to ensure they know about the severe interaction risks between allopurinol/febuxostat and anti-rejection drugs like azathioprine?
  3. 3.How often will we perform a 'fresh' urine microscopy to verify that my urine is 2,8-DHA crystal-free?
  4. 4.Can you help me set up a long-term 'surveillance calendar' for my blood and urine tests?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (13)
  1. 1

    Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.

    Runolfsdottir HL, Palsson R, Agustsdottir IM, et al.

    American journal of kidney diseases : the official journal of the National Kidney Foundation 2016; (67(3)):431-8.

    PMID: 26724837
  2. 2

    A rare cause of urolithiasis in an infant: Answers.

    Koyun M, Sancaktar M, Aksoy GK, et al.

    Pediatric nephrology (Berlin, Germany) 2021; (36(7)):2067-2068 doi:10.1007/s00467-020-04910-y.

    PMID: 33459934
  3. 3

    Long-term renal outcomes of APRT deficiency presenting in childhood.

    Runolfsdottir HL, Palsson R, Agustsdottir IM, et al.

    Pediatric nephrology (Berlin, Germany) 2019; (34(3)):435-442 doi:10.1007/s00467-018-4109-x.

    PMID: 30443743
  4. 4

    Recurrence of crystalline nephropathy after kidney transplantation in APRT deficiency and primary hyperoxaluria.

    Bollée G, Cochat P, Daudon M

    Canadian journal of kidney health and disease 2015; (2()):31 doi:10.1186/s40697-015-0069-2.

    PMID: 26380104
  5. 5

    Urinary Crystals with 2,8-Dihydroxyadeninuria.

    Mizuno S

    Internal medicine (Tokyo, Japan) 2021; (60(6)):963 doi:10.2169/internalmedicine.5939-20.

    PMID: 33055485
  6. 6

    A virtuous diagnostic and therapeutic roadmap triggered by a motivated and skilful urinary sediment examination.

    Garigali G, Marra G, Rizzo V, et al.

    Clinica chimica acta; international journal of clinical chemistry 2019; (492()):23-25 doi:10.1016/j.cca.2019.01.026.

    PMID: 30707895
  7. 7

    Febuxostat for the Prevention of Recurrent 2,8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation.

    Nanmoku K, Kurosawa A, Shinzato T, et al.

    Internal medicine (Tokyo, Japan) 2017; (56(11)):1387-1391 doi:10.2169/internalmedicine.56.8142.

    PMID: 28566603
  8. 8

    An Unusual Course of a 2,8-Dihydroxyadeninuria Crystalline Nephropathy Secondary to Adenine Phosphoribosyltransferase Deficiency.

    Nourié N, Nassereddine H, Azar H

    Nephron 2021; (145(5)):503-507 doi:10.1159/000516281.

    PMID: 34044400
  9. 9

    Kidney Transplant Outcomes in Patients With Adenine Phosphoribosyltransferase Deficiency.

    Runolfsdottir HL, Palsson R, Agustsdottir IMS, et al.

    Transplantation 2020; (104(10)):2120-2128 doi:10.1097/TP.0000000000003088.

    PMID: 31880754
  10. 10

    2,8-Dihydroxyadenine Nephropathy Identified as Cause of End-Stage Renal Disease After Renal Transplant.

    George SA, Al-Rushaidan S, Francis I, et al.

    Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation 2017; (15(5)):574-577 doi:10.6002/ect.2015.0096.

    PMID: 27447713
  11. 11

    Adenine phosphoribosyl transferase deficiency leads to renal allograft dysfunction in kidney transplant recipients: a systematic review.

    Rashid I, Verma A, Tiwari P, D'Cruz S

    Jornal brasileiro de nefrologia 2022; (44(3)):403-416 doi:10.1590/2175-8239-JBN-2021-0283en.

    PMID: 35635787
  12. 12

    Crystalline Nephropathy Due to 2,8-Dihydroxyadeninuria in a Transplanted Kidney: 2 Case Reports.

    Raza HMA, Ibrahim A, Talwar M, et al.

    The American journal of case reports 2025; (26()):e946972 doi:10.12659/AJCR.946972.

    PMID: 40478787
  13. 13

    Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial.

    Edvardsson VO, Runolfsdottir HL, Thorsteinsdottir UA, et al.

    European journal of internal medicine 2018; (48()):75-79 doi:10.1016/j.ejim.2017.10.007.

    PMID: 29241594

This page provides educational information on long-term monitoring for APRT deficiency. Always consult your nephrologist or transplant team before adjusting your medications, check-up schedule, or transplant care plan.

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