2,8-dihydroxyadeninuria is a rare, inherited problem of purine recycling. Your body normally reuses adenine (a building block of DNA) using an enzyme called APRT (adenine phosphoribosyltransferase). When APRT does not work, adenine is changed by another enzyme into 2,8-dihydroxyadenine (DHA). DHA is very insoluble in urine at any normal pH, so it forms many tiny crystals. These crystals can join together to make stones in the kidneys and urinary tract, or deposit inside the kidney tissue and damage it. Without treatment, kidney function can slowly or quickly decline and sometimes fail. Early diagnosis and daily medicine can prevent stones and protect the kidneys. PMC+1NCBI
2,8-dihydroxyadeninuria is a rare, inherited problem of purine recycling. In healthy people, the APRT enzyme recovers adenine (a purine) and safely reuses it. In APRT deficiency, this enzyme does not work well or is absent. Extra adenine is then converted by xanthine oxidoreductase into 2,8-dihydroxyadenine (DHA), a compound that is very poorly soluble in urine. DHA forms crystals that clump and grow into kidney stones. Crystals can also block tiny kidney tubules, causing crystalline nephropathy, kidney inflammation, and, if untreated, chronic kidney disease or kidney failure. The condition is autosomal recessive, meaning a child must inherit a faulty APRT gene from both parents. NCBIPMCAJKD
How it shows up.
People may have recurrent kidney stones from childhood to adulthood, blood in urine, pain from stone passage, urinary infections, or slowly worsening kidney function. Some patients are discovered only after a kidney biopsy shows characteristic crystals or after a kidney transplant fails from recurrent DHA crystal injury. DHA stones are typically radiolucent on plain X-rays (hard to see), but non-contrast CT detects them. Urine microscopy can show highly birefringent, brown, round spiculated crystals. Diagnosis is confirmed by urinary stone analysis or DHA crystal identification, low APRT activity in red blood cells, and/or APRT gene testing. PMCAJKDScienceDirect+1
Other names
2,8-dihydroxyadeninuria is also called APRT deficiency, 2,8-dihydroxyadenine urolithiasis, dihydroxyadenine nephrolithiasis, DHA crystalluria, APRT-related crystalline nephropathy, or 2,8-DHA stone disease. All these names point to the same condition: the body makes too much DHA because the APRT enzyme is missing or weak, and DHA crystals appear in urine, stones form in the urinary tract, and crystals can deposit in kidney tissue. The problem is genetic and inherited in an autosomal recessive way. It may be misdiagnosed as uric-acid stone disease because the stones can look similar on imaging and routine tests. PMCrarekidneystones.orgUK Kidney Association
Types
Type I APRT deficiency. APRT enzyme activity is essentially absent. This type is reported in many populations worldwide. Patients make large amounts of DHA and often form stones or develop crystalline kidney injury without treatment. PMCWJGnet
Type II APRT deficiency. APRT activity is reduced (about 15–30% of normal). This type has been described more often in Japan but can occur elsewhere. It still leads to DHA overproduction and kidney problems if untreated. WJGnet
How the disease happens
When APRT works, adenine is recycled into AMP. When APRT is deficient, adenine is oxidized by xanthine dehydrogenase/oxidase into 8-hydroxyadenine and then 2,8-DHA. DHA is extremely insoluble at all physiological urine pH values, so it crystallizes easily. These crystals appear in urine, build stones, and can clog kidney tubules and interstitium, causing inflammation, scarring, and kidney failure. Alkalinizing the urine does not dissolve DHA, so standard uric-acid stone measures are ineffective; enzyme-blocking medicines (e.g., allopurinol, febuxostat) and high fluid intake are the keys to prevention. PMC+1WJNU
Causes
In strict biology there is one root cause: biallelic pathogenic variants in the APRT gene. Below are 20 practical “causes and contributors” that explain why and when crystals and stones appear or kidney damage worsens.
APRT gene mutations (autosomal recessive). Two faulty APRT copies prevent adenine recycling and drive DHA overproduction. NCBI
Type I variant patterns (e.g., APRT*Q0). Nearly no APRT activity; high DHA load from infancy to adulthood. PMC
Type II variant patterns (e.g., APRT*J). Partial APRT activity still allows DHA to form in excess. WJGnet
Compound heterozygosity. Two different APRT mutations together can fully disrupt the pathway. PubMed
Consanguinity or small gene pools. Increases the chance of inheriting two APRT variants. (General genetics principle noted across rare recessive diseases; also seen in APRT cohorts.) Oxford Academic
High adenine/ purine load (diet or cell turnover). More substrate means more DHA is produced when APRT is lacking. PMC
Dehydration / low urine volume. Concentrates urine, raises crystal supersaturation, and triggers attacks or acute kidney injury. Wikipedia
No xanthine-oxidase inhibitor on board. Without allopurinol/febuxostat, adenine continues to convert to DHA. PMC
Acidic, neutral, or alkaline urine—any pH. DHA is insoluble across the range, so crystals form regardless of pH. PMC
Delayed or missed diagnosis. Years of undetected crystalluria cause scarring and CKD. PMC
Kidney stone obstruction. Recurrent blockage fuels infection and pressure damage. UK Kidney Association
Post-transplant recurrence. If APRT deficiency is unrecognized, DHA crystals can injure the new kidney. American Journal of Transplantation
Infancy/early life onset. Early DHA excretion can start kidney injury long before diagnosis. Kidney Care UK
Urinary stasis. Sluggish flow lets crystals grow and agglomerate into stones. (General urolithiasis mechanism; applies here because DHA is highly insoluble.) WJNU
Urinary tract infection. Swelling and debris can promote obstruction and crystal retention. (General stone disease principle.) UK Kidney Association
Reduced kidney function (any cause). Lower flow and clearance favors crystal deposition. (General kidney stone/ crystal nephropathy principle.) Oxford Academic
High-purine dietary pattern. More adenine precursors increase DHA formation when APRT is deficient. WJNU
Periods of catabolism (illness, fasting). Increased nucleotide breakdown raises adenine load. (Purine metabolism principle reflected in APRT reviews.) WJGnet
Lack of awareness among clinicians. Mislabeling as uric-acid stones delays targeted therapy. PMC
Use of routine “biochemical” stone assays only. These cannot distinguish DHA from uric acid; misclassification perpetuates stone risk. Wikipedia
Symptoms
Flank or side pain. Comes in waves when a stone moves or blocks urine flow. UK Kidney Association
Blood in urine. Pink, red, or tea-colored urine from crystal or stone irritation. UK Kidney Association
Gritty, sandy urine. Visible tiny brown crystals (crystalluria). rarekidneystones.org
Painful urination (dysuria). Inflammation from crystals or infection. UK Kidney Association
Frequent urination/urgency. Bladder irritation from crystals or small stones. UK Kidney Association
Nausea and vomiting. Typical with renal colic attacks. UK Kidney Association
Fever or chills (with UTI). Infection can complicate obstruction. UK Kidney Association
Back pain or lower abdominal pain. Stone passage or tissue injury. UK Kidney Association
Reduced urine output in acute attacks. Obstruction and dehydration. Wikipedia
Swelling of legs/around eyes. With advanced kidney failure. PMC
Fatigue and weakness. From chronic kidney disease. PMC
Poor growth or failure to thrive (infants). Early, heavy DHA excretion and recurrent stones. Kidney Care UK
Recurrent kidney stones from childhood. Often mistaken for uric-acid stones. UK Kidney Association
Graft dysfunction after kidney transplant. Unrecognized recurrence can injure the new kidney. American Journal of Transplantation
Silent decline in kidney function. Crystals in tubules/interstitium cause scarring over years. J-STAGE
Diagnostic tests
A) Physical examination (bedside)
Vital signs and hydration check. Fast pulse, low blood pressure, dry mouth suggest dehydration, which raises crystal risk and worsens pain. Wikipedia
Costovertebral angle (CVA) tenderness. Localized back/flank tenderness supports stone or crystal passage. (General nephrolithiasis practice.) UK Kidney Association
Edema and blood-pressure measurement. Swelling and high BP can indicate chronic kidney damage from long-standing crystalline injury. PMC
B) “Manual”/point-of-care urine tests
Urinalysis dipstick. Detects blood and sometimes leukocytes/nitrites when infection complicates stones; pH is not helpful because DHA is insoluble at all pH. PMC
Fresh urine microscopy (bright-field). Shows typical brown, round crystals with a darker rim; often plentiful. NCBIOxford Academic
Polarizing microscopy of urine sediment. DHA crystals are strongly birefringent with a characteristic polarization pattern, aiding recognition at the bedside. NCBI
C) Laboratory and pathological tests
Red-blood-cell APRT enzyme assay. Measures APRT activity; very low/absent suggests Type I, reduced suggests Type II. Confirms biochemical defect. ScienceDirect
Genetic testing of the APRT gene. Identifies biallelic pathogenic variants; useful for diagnosis, family screening, and distinguishing Type I/II patterns. NCBI
Urine DHA quantification (e.g., HPLC/LC-MS). Shows high DHA excretion in patients and none in carriers/controls; useful to monitor treatment. PMC
Stone analysis by infrared spectroscopy (FTIR) or X-ray diffraction. Definitively identifies 2,8-DHA; routine “biochemical” methods can mislabel DHA as uric acid. WJNUWikipedia
Serum creatinine and eGFR. Track kidney function; detect chronic kidney disease from crystalline damage. PMC
Urine culture. Finds infection that can complicate obstruction and worsen symptoms. UK Kidney Association
Kidney biopsy (when diagnosis remains unclear). Shows intratubular and interstitial birefringent crystals with inflammation and fibrosis—classic for DHA crystalline nephropathy. J-STAGE
Purine/pyrimidine metabolic panel (specialized). Rules out other rare purine disorders that can mimic stones. (General purine-metabolism workup described in APRT reviews.) WJGnet
D) Electrodiagnostic tests
Electrodiagnostic studies (EEG/EMG/nerve tests). Not used for this kidney-specific disease. It is important to state this to avoid unnecessary testing. The diagnosis relies on urine/stone studies, enzyme, genetics, and imaging. NCBI
E) Imaging tests
Renal ultrasound. Detects stones and obstruction; DHA stones may be invisible on plain X-ray, so ultrasound is helpful and safe. Kidney Care UK
Non-contrast CT (CT-KUB). Best test to detect stones regardless of composition; defines size and location. (Case imaging descriptions exist for DHA stones.) WJNU
Plain abdominal X-ray (KUB). Often misses DHA stones because many are radiolucent, unlike calcium stones. A normal KUB does not rule out DHA stones. PubMed
Doppler ultrasound (if severe pain or low output). Checks for obstruction and evaluates blood flow effects; supports urgent care decisions. (Standard stone-care principle.) UK Kidney Association
Post-transplant graft ultrasound/biopsy protocols. In transplant recipients with sudden graft dysfunction, targeted imaging and biopsy can detect recurrent DHA crystalline nephropathy early—critical to save the graft. American Journal of Transplantation
Non-pharmacological treatments
Important note: In DHA disease, medicines that block DHA formation are essential. The lifestyle steps below support (but do not replace) those medicines.
High-fluid strategy
Drink enough water to keep urine pale (target ≥2–2.5 liters urine/day if your clinician agrees). More urine dilutes DHA, lowering crystal formation. This is the most useful non-drug step. NCBIStructured hydration schedule
Spread fluid across the day and include a glass before bed and on waking at night if safe. This avoids overnight concentrated urine, a prime time for crystal growth. NCBILow-purine diet
Reduce dietary purines (organ meats, certain fish like sardines/anchovies/mackerel, game meats, yeast extracts). Choose lower-purine foods (dairy, eggs, most vegetables, fruits). This cuts the adenine substrate entering the purine pathway. UK Gout SocietyCleveland ClinicMayo ClinicLimit sugar-sweetened beverages and high-fructose corn syrup
Fructose metabolism increases purine turnover and uric acid load, raising the purine burden overall. Prefer water. PMCModerate animal protein
High meat intake increases purine load. Favor plant-forward meals and lean proteins in modest portions. Mayo Clinicfamilydoctor.orgAvoid dehydration triggers
Use “sick-day” rules: during vomiting/diarrhea, heat waves, or heavy exercise, increase fluids and contact your clinician if you cannot keep fluids down. Dehydration dramatically concentrates urine and promotes crystals. NCBIStone straining and capture
Use a urine strainer during symptoms to capture stones for analysis. Confirming DHA stone composition avoids misdiagnosis as uric acid stones and guides correct therapy. PMCRadiation-sparing imaging follow-up
For surveillance, ultrasound can monitor hydronephrosis; reserve CT for key decisions. DHA stones are CT-visible but X-ray radiolucent. ScienceDirectMedscapeSalt moderation
High sodium can increase calciuria and overall stone risk; aim for a modest salt intake to support kidney health. (General stone care principle.) WikipediaWeight management and physical activity
Healthy weight and regular activity lower metabolic stress and support kidney and cardiovascular health. (General kidney-stone risk reduction.) WikipediaPelvic floor relaxation & breathing drills (physiotherapy)
Gentle diaphragmatic breathing and pelvic floor relaxation can help reduce guarding and discomfort during colicky episodes while you pursue definitive medical therapy. (Supportive care principle.)Graded aerobic activity (physiotherapy)
Short, regular walks help bowel motility and pain perception after stone events, and support blood pressure and weight control—both important in CKD risk reduction.Core and back mobility (physiotherapy)
Gentle stretching may decrease musculoskeletal pain that overlaps with renal colic recovery. This targets comfort, not the crystals.Heat therapy (physiotherapy)
Warm packs to the flank can ease muscle spasm during colic alongside prescribed analgesics.Hydration habit training (educational therapy)
Use phone reminders or hydration apps. Consistency matters more than sporadic large intakes. NCBILabel reading and diet coaching (educational therapy)
Learn high-purine foods and plan swaps. A registered dietitian familiar with kidney stones can tailor options and keep nutrition balanced. UK Gout SocietyMayo ClinicMedication adherence coaching (educational therapy)
Set alarms/pillboxes. Missed xanthine-oxidase inhibitor doses can allow DHA to re-accumulate. NCBIFamily screening education
Teach relatives that APRT deficiency is autosomal recessive; siblings may be affected or carriers and may benefit from testing. NCBIMind-body pain coping
Brief, structured techniques (paced breathing, guided imagery) can reduce pain catastrophizing and improve coping during colic.Sleep hygiene
Regular sleep supports immune function, blood pressure, and pain thresholds—useful in recovery phases.Heat-safety plan
During hot seasons, pre-hydrate before outdoor work and schedule rest breaks to avoid concentrated urine.UTI prevention hygiene
Early recognition and treatment of urinary infections reduce inflammation around crystals and stones.Post-transplant vigilance education
If transplanted, educate on the risk of recurrent DHA crystal nephropathy in the graft without proper therapy, and the need for lifelong XO inhibition. PMCAlcohol moderation
Alcohol (especially beer) increases purine load and dehydration risk. Limit or avoid. UK Gout SocietyAvoid useless urine alkalinization for DHA
Unlike uric-acid stones, raising urine pH does not meaningfully dissolve DHA at usual ranges; don’t rely on this as a treatment. ScienceDirectKarger
Drug treatments
Vital context: Only xanthine oxidoreductase inhibitors stop DHA formation. Others below are supportive (stone passage, pain control, BP/CKD care). Doses are general adult references—always individualize with your clinician, especially in CKD, pregnancy, or pediatrics.
Allopurinol (xanthine oxidase inhibitor)
Dose/time: Often 300–400 mg/day in adults; up to 400–600 mg/day in some cases; children ~5–10 mg/kg/day (max per clinician). Daily dosing.
Purpose/mechanism: Blocks xanthine oxidoreductase, preventing conversion of adenine to 2,8-DHA; dramatically reduces urine DHA and stone recurrence.
Key side effects: Rash (rare severe hypersensitivity), liver enzyme rise, cytopenias; dose adjust in CKD; review drug interactions. NCBIWJNUFebuxostat (xanthine oxidase inhibitor)
Dose/time: 40–80 mg once daily (studies also explore 80 mg vs allopurinol 400 mg).
Purpose/mechanism: Same enzyme block; some data suggest stronger suppression of urinary DHA at typical doses.
Key side effects: Liver enzyme elevations, gout flare risk early in gout populations, rare CV warnings—discuss risk profile; renal dose adjustment differs from allopurinol. NCBIPubMedTamsulosin (alpha-blocker; stone-passage aid)
Dose/time: 0.4 mg nightly for short courses during ureteral colic.
Purpose/mechanism: Relaxes ureteral smooth muscle, may help pass distal ureteral stones and ease colic.
Side effects: Dizziness, orthostatic hypotension, ejaculatory symptoms. (Supportive.) MedscapeAcetaminophen (paracetamol) (analgesic)
Dose/time: As directed; avoid exceeding daily max; safer than NSAIDs in CKD.
Purpose/mechanism: Central analgesic for colic pain when NSAIDs are limited.
Side effects: Liver toxicity at high doses.NSAIDs (e.g., ibuprofen, ketorolac) (anti-inflammatories)
Dose/time: Short, clinician-guided courses for acute colic.
Purpose/mechanism: Prostaglandin inhibition reduces ureteral spasm and pain.
Side effects: GI bleeding, kidney function impact—use caution in CKD.Opioid rescue (e.g., morphine) for severe colic
Dose/time: Short-term in ED/hospital if needed.
Purpose/mechanism: Strong analgesia for refractory pain.
Side effects: Sedation, constipation, dependence risk.Antiemetics (e.g., ondansetron)
Dose/time: As needed during colic.
Purpose/mechanism: Controls nausea/vomiting so patients can hydrate and take medicines.
Side effects: Headache, constipation; QT caution.Antibiotics for UTI (culture-guided)
Dose/time: Per culture and local guidelines.
Purpose/mechanism: Treats bacterial infection that may accompany obstruction or stents.
Side effects: Drug-specific; stewardship important.Intravenous fluids (hospital setting)
Dose/time: Short-term isotonic fluids for dehydration/colic with vomiting.
Purpose/mechanism: Rapid rehydration to dilute urine and support kidney perfusion.
Side effects: Fluid overload in heart/renal impairment—monitor.ACE inhibitor or ARB (kidney-protective in proteinuric CKD)
Dose/time: Once daily; titrated.
Purpose/mechanism: Lowers intraglomerular pressure, reduces proteinuria, protects kidneys if CKD develops.
Side effects: Cough (ACEi), high potassium, creatinine rise—monitor.SGLT2 inhibitor (e.g., dapagliflozin) for CKD with albuminuria
Dose/time: Once daily where indicated.
Purpose/mechanism: Proven kidney-protective effects in many CKD settings; not disease-specific, but may be considered if albuminuric CKD and indications are met—discuss with nephrology.
Side effects: Genital mycotic infections, rare ketoacidosis—patient selection matters.Calcium channel blocker (blood-pressure control)
Dose/time: Daily titration.
Purpose/mechanism: BP control supports kidney health and reduces CKD progression risk.
Side effects: Edema, flushing—drug-specific.Statin (if dyslipidemia)
Dose/time: Nightly or daily.
Purpose/mechanism: Vascular protection in CKD patients at CV risk.
Side effects: Myalgias; lab monitoring.Proton-pump inhibitor (short course if NSAID needed)
Dose/time: Daily during NSAID course.
Purpose/mechanism: GI protection if NSAIDs required for colic.
Side effects: Long-term risks—keep shortest effective duration.Topical heat/antispasmodics adjunct
Note: Some regions use oral antispasmodics briefly for colic; evidence is variable. Discuss locally available options; focus remains on XO inhibitors for prevention.
(Where direct, disease-specific drug evidence is strongest is with allopurinol/febuxostat suppressing DHA; several comparative and treatment-table sources support this. NCBIPubMed)
Dietary “molecular” supplements
Evidence for supplements in APRT deficiency is limited. The cornerstone remains XO inhibition plus hydration and low-purine diet. The items below are general kidney-health adjuncts—use only with clinician approval, especially if you have CKD or take multiple medicines.
Citrate from foods (e.g., lemon/lime)
Function: raises urinary citrate (a general stone inhibitor) and may support overall stone prevention, though it does not dissolve DHA. Mechanism: citrate can inhibit crystal aggregation in general. Dose: use dietary sources rather than pills unless advised. WikipediaAdequate calcium intake (food-based)
Function: binds oxalate in gut (general stone care) without raising purines. Mechanism: lowers oxalate absorption. Dose: meet—not exceed—daily needs with dairy or fortified alternatives. WikipediaOmega-3 fatty acids (food or supplement if indicated)
Function: anti-inflammatory support; may help general CKD-adjacent cardiovascular health. Mechanism: eicosanoid modulation.Vitamin D (if deficient)
Function: bone health in CKD; deficiency correction supports musculoskeletal recovery. Mechanism: endocrine calcium-phosphate regulation.Magnesium (food-first)
Function: general crystallization inhibitor for some stone types; evidence is broader in mixed stones, not DHA. Mechanism: complexes anions; use only if clinician approves.Potassium from foods (fruits/vegetables) if safe
Function: supports alkalinity of diet and BP; not to alkalinize urine for DHA, but for overall metabolic health. Mechanism: dietary pattern effects; avoid if hyperkalemia/advanced CKD. Mayo ClinicFiber/whole-food patterns
Function: supports weight, glycemia, and uric acid metabolism; choose low-purine plant options. Mechanism: metabolic risk reduction. HealthlineLimit high-dose vitamin C
Function: avoid potential oxalate load; general stone advice. Mechanism: oxalate from ascorbate metabolism at high doses.Caffeine in moderation
Function: mild diuresis for some people; avoid if it worsens dehydration or sleep.Probiotics (experimental for uric acid handling)
Function: very preliminary; not disease-specific—do not rely on this. Mechanism: gut purine metabolism hypotheses; discuss before use.
Immunity-booster / regenerative / stem-cell drugs
There are currently no approved immune-booster, regenerative, or stem-cell drugs that treat APRT deficiency or dissolve DHA crystals. The scientifically proven disease-modifying approach is xanthine oxidoreductase inhibition with allopurinol or febuxostat, plus hydration and diet. Below are six clinician-directed medical strategies that can protect overall kidney health in appropriate patients, but they are not regenerative cures:
Allopurinol/febuxostat (repeat, because they are the only proven disease-modifying drugs for DHA). Purpose: stop DHA formation; protect kidneys. NCBI
ACE inhibitor or ARB (if albuminuria/HTN): renoprotective in CKD. Purpose: slow CKD progression.
SGLT2 inhibitor (if albuminuric CKD indications are met): Purpose: kidney protection in many CKD populations; discuss with nephrologist.
Vaccinations (influenza, pneumococcal) per CKD guidelines: Purpose: reduce infection stress on kidneys; vaccines are preventive biologics, not “boosters,” but they lower risk of complications.
Anemia management in CKD when indicated (e.g., iron, ESAs under specialist care): Purpose: improve oxygen delivery, function.
Bone-mineral CKD care (vitamin D, phosphate binders when indicated): Purpose: protect bones and vessels as CKD advances.
Surgeries/procedure
Ureteroscopy with laser lithotripsy
What it is: A small scope through the urethra and bladder into the ureter/kidney to fragment and remove stones.
Why done: To clear obstructing DHA stones that will not pass or cause infection/pain.Ureteral stent placement
What it is: A thin tube placed between kidney and bladder to bypass blockage.
Why done: To relieve obstruction, pain, or infection risk before or after stone treatment.Percutaneous nephrolithotomy (PCNL)
What it is: A small flank incision to place a tract into the kidney and remove large stones.
Why done: For large/complex DHA stone burden.Extracorporeal shock-wave lithotripsy (ESWL)
What it is: Shock waves from outside the body to break stones into passable fragments.
Why done: Selected cases depending on stone size, location, and density; success depends on stone characteristics.Post-transplant surveillance/biopsy
What it is: In transplant recipients, biopsy or imaging if graft function declines.
Why done: To identify recurrent DHA crystalline nephropathy and intensify XO-inhibitor therapy. PMC
Prevention essentials
Take allopurinol or febuxostat exactly as prescribed—this is the core prevention. NCBI
Hydrate daily with a steady schedule; aim for consistently pale urine. NCBI
Low-purine diet and alcohol moderation (especially beer). UK Gout Society
Do not rely on urine alkalinization for DHA stones. Karger
Catch and analyze stones to confirm DHA when symptomatic. PMC
Control blood pressure—kidney protection matters.
Plan for heat/sickness to avoid dehydration spikes.
Follow imaging plans (ultrasound/CT as directed) to catch silent obstruction. Medscape
Screen family members after a diagnosis (autosomal recessive). NCBI
Keep close nephrology follow-up, especially if CKD or after transplant. AJKD
When to see a doctor
Seek urgent care now if you have severe flank pain with nausea/vomiting, fever with chills, inability to pass urine, blood in urine with clots, or signs of dehydration (dizziness, very dark urine). These can mean obstruction or infection requiring rapid treatment.
Book a prompt appointment if you pass a stone, notice recurrent urinary burning or blood, have rising creatinine or new protein in urine, or if you cannot tolerate/obtain allopurinol or febuxostat.
Arrange routine follow-up to monitor kidney function, urine testing, adherence, and dietary support. (XO-inhibitor dosing and monitoring are individualized.) NCBI
What to eat and what to avoid
Eat more of:
Water throughout the day; fruits, vegetables, whole-food meals emphasizing low-purine choices; low-fat dairy; eggs; nuts and legumes in moderation per dietitian guidance; olive-oil-based dishes. Mayo Clinicfamilydoctor.org
Limit/avoid:
Organ meats; sardines/anchovies/mackerel; game meats; yeast extracts; heavy alcohol (especially beer); sugar-sweetened beverages and high-fructose corn syrup; large frequent meat portions. (Aim for balanced meals and steady fluids.) UK Gout SocietyPMC
Frequently asked questions (FAQ)
Is DHA disease the same as “uric acid stone” disease?
No. DHA stones come from adenine metabolism in APRT deficiency, not uric acid. They require XO-inhibitors, not alkalinization alone. PMCAre DHA stones visible on X-ray?
Usually not—they’re often radiolucent on plain films. Non-contrast CT detects them well. ScienceDirectWhat do DHA crystals look like under the microscope?
They’re brown, round or spiky, and strongly birefringent under polarized light. AJKDPMCDoes raising urine pH dissolve DHA crystals?
No. DHA is poorly soluble across physiologic pH; alkalinization is not an effective stand-alone strategy. KargerWhat’s the main treatment?
Daily allopurinol or febuxostat, plus steady hydration and low-purine diet. NCBIWhich is better: allopurinol or febuxostat?
Both work; some studies suggest febuxostat can lower urinary DHA more at standard doses, but choice depends on your health profile, kidney/liver function, drug interactions, and cost. Your clinician will individualize. NCBIPubMedCan children be treated?
Yes. Weight-based dosing of XO inhibitors is used; early diagnosis prevents damage. WJNUCan I stop my medicine if I feel well?
No. DHA production resumes if XO inhibitors stop, risking new crystals and kidney damage. Long-term therapy is usually needed. NCBIWill citrate pills help?
Citrate may help general stone inhibition but does not dissolve DHA; use only as advised. WikipediaIs this genetic? Should my family be tested?
Yes, it’s autosomal recessive; siblings may be affected or carriers. Family testing is reasonable. NCBICould this be misdiagnosed as uric acid stones?
Yes, because both are radiolucent. Stone analysis and urine crystal ID avoid missteps. PMCWhat if I have a kidney transplant?
DHA can recur in the transplanted kidney without proper therapy. Lifelong XO inhibition is essential. PMCWhat blood or urine tests are used?
Urine microscopy for DHA crystals, stone analysis, APRT activity in red cells, genetic testing, and routine kidney function monitoring. NCBIDoes exercise help?
Yes—indirectly. Regular activity supports weight, BP, and overall health and encourages a hydration routine.Bottom line to protect my kidneys?
Take your XO inhibitor every day, hydrate steadily, eat a low-purine diet, and keep regular nephrology follow-up. NCBF
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
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Last Updated: September 08, 2025.
