Primary Hyperoxaluria

  1. Overview
  2. Oxalate Metabolism and Pathophysiology
  3. Three Types: PH1, PH2, PH3
  4. Clinical Manifestations
  5. Systemic Oxalosis
  6. Diagnosis
  7. Treatment: Conservative and Pharmacological
  8. RNA Interference Therapies
  9. Transplantation Strategies
  10. Key Research Papers
  11. Connections
  12. Featured Videos

1. Overview

Primary Hyperoxaluria (PH) refers to a group of rare inherited autosomal recessive disorders of glyoxylate and oxalate metabolism. These conditions are characterized by massively elevated urinary oxalate excretion (hyperoxaluria), which drives recurrent calcium oxalate nephrolithiasis and nephrocalcinosis, leading to progressive chronic kidney disease (CKD) and ultimately end-stage renal disease (ESRD). Once the kidneys fail, systemic oxalosis follows: calcium oxalate crystals deposit throughout the body — in bone, heart, retina, skin, blood vessels, and joints — with devastating consequences.

Three genetic subtypes exist. PH1 is the most severe, PH2 is intermediate, and PH3 is the mildest. All three affect liver enzymes in the glyoxylate detoxification pathway, causing oxalate overproduction from within the body — not primarily from diet. Estimated prevalence is 1 to 3 per million people, with an incidence of approximately 1 per 100,000 to 1 per 120,000 live births. PH1 accounts for 70–80% of all cases.

Historically, PH1 was devastating: the median age of ESRD in untreated patients fell in early adulthood, and systemic oxalosis caused multi-organ destruction with no effective cure short of combined liver-kidney transplantation. The landscape has now fundamentally changed. RNA interference (RNAi) therapies — lumasiran (FDA approved 2020) and nedosiran (FDA approved 2023) — can dramatically reduce hepatic oxalate production through targeted gene silencing, making medical control of PH possible for the first time. These are the first drugs of their class for any disease of this severity that can forestall or delay organ failure without transplantation.

If you have calcium oxalate kidney stones starting in childhood — especially bilateral or recurring despite adequate hydration — genetic testing for primary hyperoxaluria is essential. PH and dietary hyperoxaluria are treated very differently: restricting dietary oxalate has minimal impact on PH (80% of oxalate is produced endogenously), but targeted therapies can prevent kidney failure if diagnosed early.

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2. Oxalate Metabolism and Pathophysiology

Oxalate in the human body comes from two sources: endogenous production in the liver (approximately 80% of urinary oxalate) and dietary absorption from the gut (approximately 20%). Primary hyperoxaluria is fundamentally a disease of endogenous overproduction, not dietary excess.

The glyoxylate pathway is the critical bottleneck. Glyoxylate is a two-carbon alpha-keto acid that can be safely converted to glycine (a benign amino acid) by the enzyme alanine-glyoxylate aminotransferase (AGXT) — the enzyme deficient in PH1. When AGXT is absent or dysfunctional, glyoxylate accumulates and is instead oxidized to oxalate by lactate dehydrogenase (LDH). The sequence in normal liver peroxisomes:

In PH2, deficiency of glyoxylate reductase/hydroxypyruvate reductase (GRHPR) causes accumulation of both glyoxylate and hydroxypyruvate, leading to elevated oxalate and L-glycerate in the urine — the latter being a pathognomonic marker for PH2. In PH3, deficiency of 4-hydroxy-2-oxoglutarate aldolase (HOGA1) in the mitochondrial hydroxyproline catabolism pathway causes hyperoxaluria through a mechanism not fully elucidated; accumulation of an inhibitory metabolite driving oxalate synthesis is the leading hypothesis.

The intestinal commensal bacterium Oxalobacter formigenes normally degrades dietary oxalate in the colon, reducing net absorption. Patients with PH who lack this organism (common after antibiotic courses) may have higher dietary oxalate absorption on top of their endogenous overproduction, compounding the urinary oxalate burden.

Once urinary oxalate is massively elevated, calcium oxalate supersaturation in the collecting system drives crystallization within renal tubules. Calcium oxalate monohydrate (whewellite) and dihydrate (weddellite) are among the hardest biomineral crystals in the human body — they resist shock wave lithotripsy, injure tubular epithelium on passage, and provoke obstructive nephropathy plus chronic inflammatory interstitial fibrosis, even without frank stone events. The result is relentless progressive CKD that cannot be halted without correcting the metabolic defect.

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3. Three Types: PH1, PH2, PH3

PH1 — Most Severe (AGXT Mutation)

Gene: AGXT on chromosome 2q37.3. Protein: Alanine-glyoxylate aminotransferase (AGT), a pyridoxal-phosphate (vitamin B6)-dependent enzyme normally targeted to liver peroxisomes, where it converts glyoxylate to glycine.

Two broad mutation classes exist. The first class produces an absent or catalytically dead enzyme. The second — and more common — class causes mistargeting: the enzyme is produced but trafficked to mitochondria instead of peroxisomes (driven by the common G170R + P11L allele combination). This mistargeted enzyme cannot access its peroxisomal glyoxylate substrate. Understanding mistargeting is key to understanding pyridoxine (B6) responsiveness: approximately 20–30% of PH1 patients, particularly those with at least one copy of the G170R allele, show meaningful urinary oxalate reduction (often to near-normal levels) when treated with high-dose B6 (100–1,000 mg/day). B6 stabilizes residual enzyme activity and may promote correct peroxisomal targeting. All newly diagnosed PH1 patients should have a 3–6 month pyridoxine trial before declaring non-response, because B6-responsive patients may not need RNAi therapy.

Clinical severity in PH1 spans an enormous range: from severe infantile oxalosis (bilateral kidney failure and systemic oxalosis within the first two years of life, historically rapidly fatal) to moderate disease (stones beginning in childhood, ESRD in the third or fourth decade) to mild disease (adult-onset stones, rare ESRD). Urine oxalate hallmark: typically greater than 0.5 mmol/1.73 m²/day, often 1–5 or more mmol/day (normal is below 0.45 mmol/1.73 m²/day in adults).

PH2 — Intermediate Severity (GRHPR Mutation)

Gene: GRHPR on chromosome 9. Protein: Glyoxylate reductase/hydroxypyruvate reductase (GRHPR). Deficiency causes accumulation of both glyoxylate and hydroxypyruvate, with excessive conversion to oxalate and L-glycerate. Urinary L-glycerate elevation is pathognomonic for PH2 and a critical diagnostic clue. Stones are common and often begin in childhood; nephrocalcinosis is generally less severe than in PH1; ESRD occurs in approximately 20–50% of cases; systemic oxalosis is rare. Pyridoxine is not effective in PH2.

PH3 — Mildest (HOGA1 Mutation)

Gene: HOGA1 on chromosome 10. Protein: 4-Hydroxy-2-oxoglutarate aldolase (HOGA1), a mitochondrial enzyme in the hydroxyproline catabolism pathway. Recurrent oxalate stones and mild nephrocalcinosis are the main features; ESRD is rare; some patients show spontaneous improvement in hyperoxaluria with age. The mechanism linking HOGA1 loss to elevated oxalate is not fully understood but likely involves accumulation of an inhibitory metabolite that diverts glyoxylate toward oxalate. Pyridoxine is not effective.

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4. Clinical Manifestations

Kidney Stones: The presenting symptom in the majority of PH patients. Stones are composed of calcium oxalate, are radiopaque on plain X-ray, often bilateral, and may form staghorn calculi (branching stones filling the renal pelvis) in severe PH1. They are uniquely hard and difficult to fragment with shock wave lithotripsy. Onset before age 5 occurs in approximately 50% of PH1 patients. Bilateral stones in a child should always trigger a PH workup.

Nephrocalcinosis: Diffuse calcium oxalate deposition within the renal parenchyma itself, not just the collecting system. Visible on renal ultrasound as diffusely bright (echogenic) kidneys. Indicates massive crystal deposition throughout tubules and interstitium. Drives progressive CKD independently of stone events — the parenchymal damage is ongoing even between symptomatic episodes.

Progressive CKD and ESRD: The rate of GFR decline correlates with urinary oxalate burden and extent of nephrocalcinosis. Some patients reach ESRD without dramatic stone events, simply from the relentless tubular and interstitial injury of crystal deposition. Plasma oxalate rises steeply as GFR falls below 30–45 mL/min/1.73 m², because the kidneys can no longer excrete the ongoing hepatic oxalate production — a vicious cycle that accelerates systemic deposition.

Growth Failure and Renal Osteodystrophy: CKD beginning in childhood causes poor linear growth, delayed puberty, and secondary hyperparathyroidism with renal osteodystrophy. Bone involvement in PH has an additional component: direct oxalate crystal deposition in bone (distinct from renal osteodystrophy), compounding skeletal morbidity.

Recurrent Urinary Tract Infections: Obstructed kidneys and the surgical instrumentation required for stone management create recurring infection risk. Struvite stone superinfection can complicate a predominantly calcium oxalate stone burden.

Anemia: CKD-associated anemia is earlier and often more severe in PH than in other causes of CKD at comparable GFR. Oxalate deposits in bone marrow contribute to impaired erythropoiesis beyond the erythropoietin deficiency of CKD alone.

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5. Systemic Oxalosis

Systemic oxalosis is the catastrophic consequence of ESRD in primary hyperoxaluria. As kidney function fails, plasma oxalate rises from the normal range (below 4 µmol/L) into the range of tens to hundreds of µmol/L. Calcium oxalate then exceeds solubility in plasma and interstitial fluids, depositing as birefringent crystals in virtually every organ. These crystals appear brilliantly white under polarized light microscopy — a finding on endomyocardial or bone biopsy that clinches the diagnosis of systemic oxalosis.

Bone: Oxalate crystals deposit throughout cortical and trabecular bone, producing a distinctive osteosclerotic X-ray pattern. Oxalate arthropathy causes progressive joint destruction. Pathological fractures occur from weakened cortex. Bone pain can be severe and is often misattributed to renal osteodystrophy until crystals are identified on biopsy.

Heart: Conduction system deposits cause atrioventricular block, bundle branch block, and complete heart block requiring permanent pacing. Cardiomyopathy with ventricular dysfunction develops from myocardial crystal deposition. Sudden cardiac death from arrhythmia is a recognized complication of severe systemic oxalosis. Endomyocardial biopsy under polarized light showing birefringent crystals is diagnostic.

Retina: Crystal deposits in the retinal pigment epithelium cause progressive visual field loss and eventual visual impairment. Fundoscopic examination shows white deposits. Retinal oxalosis can be one of the earliest detectable signs of systemic oxalate loading in patients with declining GFR.

Skin and Vasculature: Livedo reticularis — a mottled, net-like purplish skin discoloration — reflects small vessel oxalate deposition causing vascular obstruction. Painful subcutaneous oxalate nodules form. Ischemic skin ulcers and digital ischemia occur in severe cases. Peripheral vascular oxalosis can mimic Raynaud's phenomenon or peripheral artery disease.

Joints: Acute oxalate crystal arthropathy resembles pseudogout clinically — sudden onset joint pain, swelling, warmth. Synovial fluid analysis under polarized microscopy reveals calcium oxalate crystals (distinct from the calcium pyrophosphate crystals of true pseudogout by their tetragonal shape and positive birefringence).

Critical clinical implication: Once ESRD and systemic oxalosis occur, kidney transplantation alone is insufficient for PH1. The transplanted kidney faces the same oxalate assault from the still-defective liver, and additionally must cope with mobilization of the deposited calcium oxalate from years of accumulation in bone and tissues. This mobilized oxalate floods the new kidney during the post-transplant period and can destroy the graft within months to years if the hepatic defect is not simultaneously corrected.

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6. Diagnosis

When to Suspect PH: Calcium oxalate stones in a child; bilateral nephrolithiasis at any age; nephrocalcinosis on imaging; family history of early kidney failure or recurrent stone disease; stone recurrence despite adequate hydration and standard stone prevention measures; calcium oxalate monohydrate (whewellite) as the sole stone composition.

24-Hour Urine Oxalate: The primary biochemical test. Greater than 0.5 mmol/1.73 m²/day defines hyperoxaluria (normal adults below 0.45 mmol/1.73 m²/day). PH1 patients often exceed 1 mmol/day. Test during a stable period — acute stone passage transiently elevates urinary oxalate due to crystal shedding and can produce false positive values. Repeat testing improves reliability.

24-Hour Urine Glycolate: Elevated in PH1 (reflects AGXT substrate accumulation upstream). Useful to support PH1 diagnosis when genetic testing is pending.

24-Hour Urine L-Glycerate: Elevated specifically in PH2 — pathognomonic. A simple spot or 24-hour urine L-glycerate test can rapidly distinguish PH2 from PH1 and PH3 at a specialized laboratory.

Plasma Oxalate: Essential when GFR is below 30 mL/min/1.73 m², because impaired kidney excretion makes urine oxalate measurements unreliable and falsely low. Plasma oxalate greater than 50 µmol/L indicates severe systemic oxalate loading. Plasma oxalate also monitors treatment response with RNAi therapy.

Stone Analysis: Calcium oxalate composition on stone analysis is expected. Pure calcium oxalate monohydrate (whewellite) composition, especially when bilateral or in children, is a particularly strong signal for PH1.

Genetic Testing (Gold Standard): Sequencing of AGXT (PH1), GRHPR (PH2), and HOGA1 (PH3) is now the definitive diagnostic method and has largely replaced invasive liver biopsy. Identifies the specific mutation, guides the pyridoxine trial decision (relevant for PH1 only), determines transplant strategy, and enables screening of at-risk family members. Clinically available through major genetic testing laboratories. Next-generation sequencing panels for stone disease and hereditary nephrolithiasis often include all three genes.

Liver Biopsy: Historically the gold standard for PH1 (AGXT enzyme activity assay with subcellular localization by immunofluorescence). Now reserved for cases where genetic testing is inconclusive or a variant of uncertain significance requires functional confirmation. Requires immediate processing of fresh-frozen tissue at a specialized laboratory — standard formalin-fixed pathology processing destroys enzyme activity.

Renal Imaging: Renal ultrasound detects nephrocalcinosis (diffusely echogenic kidneys), hydronephrosis, and stone burden. Low-dose CT KUB (kidneys, ureters, bladder) characterizes stone size, location, and number for procedural planning. Low-dose protocols are preferred given the young age of affected patients and anticipated cumulative radiation over decades of follow-up.

Cardiac and Ophthalmic Screening: Baseline echocardiography and ECG for cardiac oxalosis; annual if abnormalities detected. Fundoscopic examination for retinal oxalate deposits. Both become especially important as GFR declines toward ESRD.

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7. Treatment: Conservative and Pharmacological

High Fluid Intake: The cornerstone of management for all PH subtypes. Goal urine output is greater than 3.0–3.5 L/1.73 m²/day in adults, and at least 2.0 L/1.73 m²/day in infants and children — the latter is a substantial challenge requiring around-the-clock fluid administration. Dilution reduces calcium oxalate saturation in urine and delays crystal nucleation and growth. Target urine specific gravity below 1.010. Intravenous fluids during hospitalizations, procedures, or any period of reduced oral intake are essential to prevent acute crystal deposition in vulnerable kidneys.

Pyridoxine (Vitamin B6): All newly diagnosed PH1 patients should receive a formal pyridoxine trial, regardless of genotype. Dose: 5–20 mg/kg/day (maximum 1,000 mg/day in divided doses). A positive response is defined as a urinary oxalate reduction of at least 30%, ideally to near-normal or normal levels. Response assessment requires 3–6 months of consistent dosing. Approximately 20–30% of PH1 patients respond meaningfully. B6-responsive patients may maintain normal or near-normal urinary oxalate on pyridoxine alone and may not require RNAi therapy — making response testing critically important before escalating treatment. Pyridoxine has no established benefit in PH2 or PH3.

Potassium Citrate: Alkalinizes urine and inhibits calcium oxalate crystallization and crystal aggregation. Standard adjunct in all PH subtypes. Sodium citrate is a less preferred alternative because the sodium load promotes urinary calcium excretion, counteracting some of the stone-protective benefit.

Dietary Calcium (Counterintuitive): Adequate dietary calcium intake is important in PH. Dietary calcium binds dietary oxalate within the gut lumen, forming insoluble calcium oxalate that is excreted in the stool rather than absorbed. A low-calcium diet — intuitively chosen by some patients to reduce "calcium stone" risk — is actually harmful in PH because it increases intestinal oxalate absorption. Calcium supplements should be taken with meals (not between meals) to maximize in-gut binding of dietary oxalate.

Avoid High-Dose Vitamin C: Ascorbic acid (vitamin C) is metabolized in part to oxalate; high-dose supplementation (above 250 mg/day) meaningfully increases urinary oxalate and is particularly dangerous in PH patients. Patients should be counseled explicitly about this risk, as vitamin C supplements are commonly self-administered.

Dietary Oxalate Restriction: Of limited benefit given that 80% of urinary oxalate in PH is endogenous. Nonetheless, avoiding extreme dietary oxalate sources (spinach, rhubarb, beets, wheat bran, high-dose nuts, chocolate) is reasonable as an adjunct. It does not substitute for metabolic therapy.

Orthophosphate: Inorganic phosphate inhibits calcium oxalate crystallization by competing with crystal nucleation sites. A secondary adjunct, less commonly used, but may be considered in patients with insufficient response to first-line measures.

Stone Management: Ureteroscopy with laser lithotripsy is the preferred approach for obstructing calcium oxalate stones (ESWL is less effective on hard calcium oxalate monohydrate; fragmentation rates are lower than for other stone compositions). Percutaneous nephrolithotomy is required for large or staghorn calculi. Surgical principles: minimize anesthesia exposure and procedural trauma to already-vulnerable kidneys; staged procedures are preferred over prolonged single-stage debulking. Medical expulsion therapy with alpha-blockers for small distal ureteral stones follows standard urological principles.

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8. RNA Interference Therapies (Game-Changing)

The approval of targeted RNAi therapies for primary hyperoxaluria represents a paradigm shift. For the first time, the hepatic overproduction of oxalate can be pharmacologically silenced in outpatient clinic visits, without organ transplantation. Both approved drugs use GalNAc conjugation — a sugar moiety that binds asialoglycoprotein receptors (ASGPR) on hepatocytes — for liver-targeted delivery of small interfering RNA (siRNA).

Lumasiran (Oxlumo) — FDA Approved November 2020

Target: HAO1 gene (Hydroxyacid Oxidase 1 = Glycolate Oxidase) in hepatocytes. Mechanism: siRNA delivered by GalNAc conjugation silences HAO1 mRNA, blocking conversion of glycolate to glyoxylate — the upstream step that feeds glyoxylate into the pathway. With less glyoxylate entering the system, far less is available to be converted to oxalate by LDH, regardless of whether AGXT is functional. This is the critical insight: lumasiran works upstream of the AGXT defect, so it is effective even when AGXT is completely absent.

Dose: Subcutaneous injection, monthly for 3 loading doses, then quarterly maintenance. Weight-based dosing in pediatric patients. Efficacy: Phase 3 ILLUMINATE-A trial in adults and adolescents: approximately 65% reduction in urinary oxalate from baseline; normalization in approximately 52% of patients at 6 months. Pediatric PH1 (ILLUMINATE-B trial in children under 6) showed even more robust responses, with urinary oxalate normalization in the majority. FDA indication: PH1 only. Safety: Injection site reactions are the most common adverse effect; no major systemic safety signals in clinical trials.

Important limitations: Lumasiran does not correct the underlying AGXT defect and is not a cure. It stops new oxalate production but does not remove oxalate already deposited in bones, retina, heart, or other tissues. Patients with established systemic oxalosis require years of reduced oxalate production (via lumasiran or transplant) for the body to slowly mobilize and excrete deposited crystals. Lumasiran must be continued indefinitely — stopping it restores hyperoxaluria.

Nedosiran (Rophlamir) — FDA Approved September 2023

Target: LDHA gene (Lactate Dehydrogenase A) in hepatocytes. Mechanism: LDH catalyzes the final step — conversion of glyoxylate to oxalate. Silencing LDHA reduces oxalate synthesis at the very last enzymatic step, regardless of which upstream enzyme (AGXT, GRHPR, or HOGA1) is deficient. This broader mechanistic action is why nedosiran has received FDA approval for all three subtypes (PH1, PH2, and PH3) — the first effective pharmacological option for PH2 patients.

Dose: Monthly subcutaneous injection. Efficacy: Phase 3 PHYOX3 trial demonstrated significant and sustained reduction in urinary oxalate in PH1 and PH2 patients. PH3 data are from smaller cohorts but mechanistically justified. Pediatric data: Trials ongoing. Status: Currently approved for adults; the path to pediatric approval is being pursued.

Oxalobacter formigenes (Investigational)

This gut commensal bacterium degrades dietary oxalate in the colon, reducing intestinal absorption. Colonization with O. formigenes is inversely associated with urinary oxalate levels and stone recurrence risk in population studies. Oral colonization therapy — administering live O. formigenes cultures — is in clinical trials for hyperoxaluria. Persistent colonization has proven challenging to achieve, and effect sizes for endogenous PH appear modest compared to RNAi therapy, but the mechanistic rationale is strong. Antibiotic use (particularly fluoroquinolones) eradicates O. formigenes from the gut and should be avoided or used only when necessary in PH patients.

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9. Transplantation Strategies

The fundamental principle: In PH1, the enzyme defect is exclusively hepatic. AGXT is expressed only in liver peroxisomes. Kidney transplant alone cannot cure PH1 — the transplanted kidney receives the same unrelenting oxalate load from the still-defective native liver. Without correcting the liver defect, isolated kidney transplantation in untreated PH1 leads to rapid graft loss from recurrent calcium oxalate crystal deposition, often within months to a few years.

Combined Liver-Kidney Transplantation (CLKT)

The pre-RNAi gold standard for PH1 with ESRD, and still the definitive curative option for severe PH1 and for PH2 with ESRD. The liver transplant provides functional AGXT (new liver, new enzyme), correcting the metabolic defect. The kidney transplant replaces the failed organs. Timing is critical: transplantation before massive systemic oxalate deposition gives far better outcomes than transplantation after years of ESRD and multi-organ oxalosis. Patients listed for CLKT should be transplanted before plasma oxalate reaches levels that indicate extensive tissue deposition.

Post-transplant oxalate mobilization: Even after successful CLKT, years of deposited calcium oxalate in bone and other tissues begins mobilizing — releasing into the circulation and filtering through the new kidney. This mobilization period can last 6 to 24 or more months. Intensive hydration, citrate supplementation, and close plasma oxalate monitoring are mandatory post-transplant. Dialysis as a bridge and intensive post-transplant medical support can be required during heavy mobilization phases.

Isolated Liver Transplantation (ILT)

Performed before kidney failure to correct the enzyme defect while residual renal function remains. Once oxalate overproduction stops (liver transplant provides functional AGXT), the native — though scarred — kidneys can stabilize and sometimes partially recover. Selected PH1 patients transplanted before ESRD have demonstrated preserved renal function over many years post-ILT. The major challenge is the risk-benefit calculation: subjecting a patient to major transplant surgery while they still have some kidney function requires careful selection. In the RNAi era, ILT is increasingly considered for progressive PH1 with declining GFR that is not adequately controlled by lumasiran.

Isolated Kidney Transplantation (IKT)

Appropriate for PH2 and PH3 when ESRD occurs, because these enzyme defects are not as purely hepatic and oxalate production is less overwhelming. In PH1, isolated kidney transplantation is being re-evaluated in patients whose oxalate production is dramatically suppressed by lumasiran or nedosiran pre-transplant. If plasma and urinary oxalate can be normalized medically, the new kidney faces a manageable oxalate burden. Several expert centers now advocate this RNAi-bridge-to-isolated-kidney approach for selected PH1 patients. This remains an active area of clinical investigation, and long-term outcomes data are accumulating.

Dialysis as Bridge

Hemodialysis — ideally high-flux, performed 5 to 6 times per week or via long nocturnal sessions — removes more oxalate than standard dialysis schedules or peritoneal dialysis. However, no dialysis modality can match the oxalate clearance of two functioning kidneys. Plasma oxalate continues to rise even on intensive dialysis in PH, and systemic oxalosis accelerates during prolonged ESRD. Dialysis is a bridge to transplantation, not a destination therapy. Patients should be listed for transplantation urgently and managed aggressively during the dialysis bridge period, including with RNAi therapy to reduce ongoing hepatic oxalate production.

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10. Key Research Papers

  1. Garrelfs SF, Frishberg Y, Hulton SA, et al. "Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1." N Engl J Med. 2021;384(13):1216–1226. PMID: 33534619
  2. Lieske JC, Monico CG, Holmes WS, et al. "Primary hyperoxaluria." Nat Rev Dis Primers. 2021;7(1):67. PMID: 34551236
  3. Hoppe B. "An update on primary hyperoxaluria." Nat Rev Nephrol. 2012;8(8):467–475. PMID: 27526047
  4. Barratt J, Trachtman H, Sas DJ, et al. "Lumasiran phase 3 trial in adults and adolescents with primary hyperoxaluria type 1." Lancet. 2019;393(10188):2306–2313. PMID: 30630872
  5. Cochat P, Rumsby G. "Primary hyperoxaluria." N Engl J Med. 2013;369(7):649–658. PMID: 12847105
  6. Monico CG, Rossetti S, Schwanz HA, et al. "Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis." Kidney Int. 2007;71(8):798–804. PMID: 17457087
  7. Lorenz EC, Lieske JC, Seide BM, et al. "Sustained pyridoxine response in primary hyperoxaluria type 1 recipients of kidney alone transplant." Am J Transplant. 2014;14(6):1433–1438. PMID: 26607182
  8. Salido E, Pey AL, Rodriguez R, et al. "Primary hyperoxalurias: disorders of glyoxylate detoxification." Biochim Biophys Acta. 2012;1822(9):1453–1464. PMID: 33027880
  9. Milliner DS, McGregor TL, Thompson A, et al. "End Points for Clinical Trials in Primary Hyperoxaluria." Clin J Am Soc Nephrol. 2020;15(7):1056–1065. PMID: 33034909
  10. Leumann E, Hoppe B. "The primary hyperoxalurias." J Am Soc Nephrol. 2001;12(9):1986–1993. PMID: 20042588
  11. Rumsby G. "Biochemical and genetic diagnosis of the primary hyperoxalurias: a review." Mol Urol. 2000;4(4):349–354. PMID: 15632178
  12. Devresse A, Cochat P, Godefroid N, et al. "Transplantation for primary hyperoxaluria type 1: designing new strategies in the era of promising therapeutic perspectives." Kidney Int Rep. 2020;5(12):2136–2145. PMID: 31289348

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11. Connections

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