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Diagnosis and management of primary hyperoxalurias: best practices

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Abstract

The primary hyperoxalurias (PH 1, 2, and 3) are rare autosomal recessive disorders of glyoxylate metabolism resulting in hepatic overproduction of oxalate. Clinical presentations that should prompt consideration of PH include kidney stones, nephrocalcinosis, and kidney failure of unknown etiology, especially with echogenic kidneys on ultrasound. PH1 is the most common and severe of the primary hyperoxalurias with a high incidence of kidney failure as early as infancy. Until the recent availability of a novel RNA interference (RNAi) agent, PH care was largely supportive of eventual need for kidney/liver transplantation in PH1 and PH2. Together with the Oxalosis and Hyperoxaluria Foundation, the authors developed a diagnostic algorithm for PH1 and in this report outline best clinical practices related to its early diagnosis, supportive treatment, and long-term management, including the use of the novel RNAi. PH1-focused approaches to dialysis and kidney/liver transplantation for PH patients with progression to chronic kidney disease/kidney failure and systemic oxalosis are suggested. Therapeutic advances for this devastating disease heighten the importance of early diagnosis and informed treatment.

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References

  1. Demoulin N, Aydin S, Gillion V, Morelle J, Jadoul M (2022) Pathophysiology and management of hyperoxaluria and oxalate nephropathy: a review. Am J Kidney Dis 79:717–727

    Article  CAS  PubMed  Google Scholar 

  2. Fargue S, Acquaviva Bourdain C (2022) Primary hyperoxaluria type 1: pathophysiology and genetics. Clin Kidney J 15(Suppl 1):i4–i8

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Danpure CJ, Jennings R (1986) Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I. FEBS Lett 201:20–24

    Article  CAS  PubMed  Google Scholar 

  4. Webster KE, Ferree PM, Holmes RP, Cramer SD (2000) Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2). Hum Genet 107:176–185

    Article  CAS  PubMed  Google Scholar 

  5. Monico CG, Rossetti S, Belostotsky R, Cogal AG, Herges RM, Seide BM, Olson JB, Bergstrahl EJ, Williams HJ, Haley WE, Frishberg Y, Milliner DS (2011) Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis. Clin J Am Soc Nephrol 6:2289–2295

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Martin-Higueras C, Garrelfs SF, Groothoff JW, Jacob DE, Moochhala SH, Bacchetta J, Acquaviva C, Zaniew M, Sikora P, Beck BB, Hoppe B (2021) A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3. Kidney Int 100:621–635

    Article  CAS  PubMed  Google Scholar 

  7. Groothoff JW, Metry E, Deesker L, Garrelfs S, Acquaviva C, Almardini R, Beck BB, Boyer O, Cerkauskiene R, Ferraro PM, Groen LA, Gupta A, Knebelmann B, Mandrile G, Moochhala SS, Prytula A, Putnik J, Rumsby G, Soliman NA, Somani B, Bacchetta J (2023) Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope. Nat Rev Nephrol 19:194-211

  8. Niederberger M, Spranger J (2020) Delphi technique in health sciences: a map. Front Public Health 8:457

    Article  PubMed  PubMed Central  Google Scholar 

  9. Sas DJ, Harris C, Milliner DS (2019) Recent advances in the identification and management of inherited hyperoxalurias. Urolithiasis 47:79–89

    Article  PubMed  Google Scholar 

  10. Edvardsson VO, Goldfarb DS, Lieske JC, Beara-Lasic L, Anglani F, Milliner DS, Palsson R (2013) Hereditary causes of kidney stones and chronic kidney disease. Pediatr Nephrol 28:1923–1942

    Article  PubMed  PubMed Central  Google Scholar 

  11. Edvardsson V, Sas D (2022) Urinary stone disease and nephrocalcinosis. In Emma F, et al (ed) Pediatric Nephrology, 8th edn. Springer, Cham

  12. Marangella M, Petrarulo M, Vitale C, Daniele PG, Sammartano S, Cosseddu D, Linari F (1991) Serum calcium oxalate saturation in patients on maintenance haemodialysis for primary hyperoxaluria or oxalosis-unrelated renal diseases. Clin Sci (Lond) 81:483–490

    Article  CAS  PubMed  Google Scholar 

  13. Milliner DS, McGregor TL, Thompson A, Dehmel B, Knight J, Rosskamp R, Blank M, Yang S, Fargue S, Rumsby G, Groothoff J, Allain M, West M, Hollander K, Lowther WT, Lieske JC (2020) End points for clinical trials in primary hyperoxaluria. Clin J Am Soc Nephrol 15:1056–1065

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Milliner DS, Cochat P, Hulton SA, Harambat J, Banos A, Dehmel B, Lindner E (2021) Plasma oxalate and eGFR are correlated in primary hyperoxaluria patients with maintained kidney function-data from three placebo-controlled studies. Pediatr Nephrol 36:1785–1793

    Article  PubMed  PubMed Central  Google Scholar 

  15. Hoppe B, Kemper MJ, Bökenkamp A, Portale AA, Cohn RA, Langman CB (1999) Plasma calcium oxalate supersaturation in children with primary hyperoxaluria and end-stage renal failure. Kidney Int 56:268–274

    Article  CAS  PubMed  Google Scholar 

  16. Mandrile G, Beck B, Acquaviva C, Rumsby G, Deesker L, Garrelfs S, Gupta A, Bacchetta J, Groothoff J; OxalEurope Consortium/Erknet Guideline Workgroup On Hyperoxaluria (2023) Genetic assessment in primary hyperoxaluria: why it matters. Pediatr Nephrol 38:625–634

    Article  PubMed  Google Scholar 

  17. Sas DJ, Enders FT, Mehta RA, Tang X, Zhao F, Seide BM, Milliner DS, Lieske JC (2020) Clinical features of genetically confirmed patients with primary hyperoxaluria identified by clinical indication versus familial screening. Kidney Int 97:786–792

    Article  CAS  PubMed  Google Scholar 

  18. Pearle MS, Goldfarb DS, Assimos DG, Curhan G, Denu-Ciocca CJ, Matlaga BR, Monga M, Penniston KL, Preminger GM, Turk TM, White JR; American Urological Assocation (2014) Medical management of kidney stones: AUA guideline. J Urol 192:316–324

    Article  PubMed  Google Scholar 

  19. Gupta A, Somers MJG, Baum MA (2022) Treatment of primary hyperoxaluria type 1. Clin Kidney J 15(Suppl 1):i9–i13

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. Cochat P, Groothoff J (2013) Primary hyperoxaluria type 1: practical and ethical issues. Pediatr Nephrol 28:2273–2281

    Article  PubMed  Google Scholar 

  21. Leumann E, Hoppe B, Neuhaus T (1993) Management of primary hyperoxaluria: efficacy of oral citrate administration. Pediatr Nephrol 7:207–211

    Article  CAS  PubMed  Google Scholar 

  22. Meschi T, Maggiore U, Fiaccadori E, Schianchi T, Bosi S, Adorni G, Ridolo E, Guerra A, Allegri F, Novarini A, Borghi L (2004) The effect of fruits and vegetables on urinary stone risk factors. Kidney Int 66:2402–2410

    Article  CAS  PubMed  Google Scholar 

  23. Massey L (2005) Magnesium therapy for nephrolithiasis. Magnes Res 18:123–126

    CAS  PubMed  Google Scholar 

  24. Cochat P, Hulton SA, Acquaviva C, Danpure CJ, Daudon M, De Marchi M, Fargue S, Groothoff J, Harambat J, Hoppe B, Jamieson NV, Kemper MJ, Mandrile G, Marangella M, Picca S, Rumsby G, Salido E, Straub M, van Woerden CS; OxalEurope (2012) Primary hyperoxaluria type 1: indications for screening and guidance for diagnosis and treatment. Nephrol Dial Transplant 27:1729–1736

    Article  CAS  PubMed  Google Scholar 

  25. Noori N, Honarkar E, Goldfarb DS, Kalantar-Zadeh K, Taheri M, Shakhssalim N, Parvin M, Basiri A (2014) Urinary lithogenic risk profile in recurrent stone formers with hyperoxaluria: a randomized controlled trial comparing DASH (Dietary Approaches to Stop Hypertension)-style and low-oxalate diets. Am J Kidney Dis 63:456–463

    Article  CAS  PubMed  Google Scholar 

  26. Singh P, Chebib FT, Cogal AG, Gavrilov DK, Harris PC, Lieske JC (2020) Pyridoxine responsiveness in a type 1 primary hyperoxaluria patient with a rare (atypical). Kidney Int Rep 5:955–958

    Article  PubMed  PubMed Central  Google Scholar 

  27. Mandrile G, van Woerden CS, Berchialla P, Beck BB, Acquaviva Bourdain C, Hulton SA, Rumsby G; OxalEurope Consortium (2014) Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. Kidney Int 86:1197–1204

    Article  CAS  PubMed  Google Scholar 

  28. Fargue S, Rumsby G, Danpure CJ (2013) Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1. Biochim Biophys Acta 1832:1776–1783

    Article  CAS  PubMed  Google Scholar 

  29. Garrelfs SF, Frishberg Y, Hulton SA, Koren MJ, O’Riordan WD, Cochat P, Deschênes G, Shasha-Lavsky H, Saland JM, Van’t Hoff WG, Fuster DG, Magen D, Moochhala SH, Schalk G, Simkova E, Groothoff JW, Sas DJ, Meliambro KA, Lu J, Sweetser MT, Garg PP, Vaishnaw AK, Gansner JM, McGregor TL, Lieske JC; ILLUMINATE-A Collaborators (2021) Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1. N Engl J Med 384(13):1216–1226. https://doi.org/10.1056/NEJMoa2021712. PMID: 33789010

    Article  CAS  PubMed  Google Scholar 

  30. Frishberg Y, Deschênes G, Groothoff JW, Hulton SA, Magen D, Harambat J, Van't Hoff WG, Lorch U, Milliner DS, Lieske JC, Haslett P, Garg PP, Vaishnaw AK, Talamudupula S, Lu J, Habtemariam BA, Erbe DV, McGregor TL, Cochat P; study collaborators (2021) Phase 1/2 study of lumasiran for treatment of primary hyperoxaluria type 1: a placebo-controlled randomized clinical trial. Clin J Am Soc Nephrol 16:1025–1036

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  31. Sas DJ, Magen D, Hayes W, Shasha-Lavsky H, Michael M, Schulte I, Sellier-Leclerc AL, Lu J, Seddighzadeh A, Habtemariam B, McGregor TL, Fujita KP, Frishberg Y; ILLUMINATE-B Workgroup (2022) Phase 3 trial of lumasiran for primary hyperoxaluria type 1: a new RNAi therapeutic in infants and young children. Genet Med 24:654–662

    Article  CAS  PubMed  Google Scholar 

  32. Hayes W, Sas DJ, Magen D, Shasha-Lavsky H, Michael M, Sellier-Leclerc AL, Hogan J, Ngo T, Sweetser MT, Gansner JM, McGregor TL, Frishberg Y (2023) Efficacy and safety of lumasiran for infants and young children with primary hyperoxaluria type 1: 12-month analysis of the phase 3 ILLUMINATE-B trial. Pediatr Nephrol 38:1075–1086

    Article  PubMed  Google Scholar 

  33. Michael M, Groothoff JW, Shasha-Lavsky H, Lieske JC, Frishberg Y, Simkova E, Sellier-Leclerc AL, Devresse A, Guebre-Egziabher F, Bakkaloglu SA, Mourani C, Saqan R, Singer R, Willey R, Habtemariam B, Gansner JM, Bhan I, McGregor T, Magen D (2023) Lumasiran for advanced primary hyperoxaluria type 1: phase 3 ILLUMINATE-C trial. Am J Kidney Dis 81(2):145-155.e1

    Article  CAS  PubMed  Google Scholar 

  34. Stokes F, Acquaviva-Bourdain C, Hoppe B, Lieske JC, Lindner E, Toulson G, Vaz FM, Rumsby G (2020) Plasma oxalate: comparison of methodologies. Urolithiasis 48:473–480

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  35. Stevens PE, Levin A; Kidney Disease: Improving Global Outcomes Chronic Kidney Disease Guideline Development Work Group Members (2013) Evaluation and management of chronic kidney disease: synopsis of the kidney disease: improving global outcomes 2012 clinical practice guideline. Ann Intern Med 158:825–830

  36. Derveaux T, Delbeke P, Walraedt S, Raes A, Van Laecke S, Leroy BP, De Zaeytijd J (2016) Detailed clinical phenotyping of oxalate maculopathy in primary hyperoxaluria type 1 and review of the literature. Retina 36:2227–2235

    Article  CAS  PubMed  Google Scholar 

  37. Lagies R, Beck BB, Hoppe B, Sreeram N, Udink Ten Cate FE  (2013) Apical sparing of longitudinal strain, left ventricular rotational abnormalities, and short-axis dysfunction in primary hyperoxaluria type 1. Circ Heart Fail 6:e45–e47

    Article  PubMed  Google Scholar 

  38. Sas DJ, Enders FT, Gunderson TM, Mehta RA, Olson JB, Seide BM, Banks CJ, Dehmel B, Pellikka PA, Lieske JC, Milliner DS (2021) Natural history of clinical, laboratory, and echocardiographic parameters of a primary hyperoxaluria cohort on long term hemodialysis. Front Med (Lausanne) 8:592357

    Article  PubMed  Google Scholar 

  39. Fisher D, Hiller N, Drukker A (1995) Oxalosis of bone: report of four cases and a new radiological staging. Pediatr Radiol 25:293–295

    Article  CAS  PubMed  Google Scholar 

  40. Ben-Shalom E, Cytter-Kuint R, Rinat C, Becker-Cohen R, Tzvi-Behr S, Goichberg J, Peles V, Frishberg Y (2021) Long-term complications of systemic oxalosis in children-a retrospective single-center cohort study. Pediatr Nephrol 36:3123–3132

    Article  PubMed  Google Scholar 

  41. Julian BA, Faugere MC, Malluche HH (1987) Oxalosis in bone causing a radiographical mimicry of renal osteodystrophy. Am J Kidney Dis 9:436–440

    Article  CAS  PubMed  Google Scholar 

  42. Rootman MS, Mozer-Glassberg Y, Gurevich M, Schwartz M, Konen O (2018) Imaging features of primary hyperoxaluria. Clin Imaging 52:370–376

    Article  PubMed  Google Scholar 

  43. El Hage S, Ghanem I, Baradhi A, Mourani C, Mallat S, Dagher F, Kharrat K (2008) Skeletal features of primary hyperoxaluria type 1, revisited. J Child Orthop 2:205–210

    Article  PubMed  PubMed Central  Google Scholar 

  44. Merz LM, Born M, Kukuk G, Sprinkart AM, Becker I, Martin-Higueras C, Hoppe B (2023) Correction to: three Tesla magnetic resonance imaging detects oxalate osteopathy in patients with primary hyperoxaluria type I. Pediatr Nephrol 38:2497–2498

    Article  PubMed  Google Scholar 

  45. Merz LM, Born M, Kukuk G, Sprinkart AM, Becker I, Martin-Higueras C, Hoppe B (2023) Three Tesla magnetic resonance imaging detects oxalate osteopathy in patients with primary hyperoxaluria type I. Pediatr Nephrol 38:2083–2092

    Article  PubMed  Google Scholar 

  46. Bacchetta J, Fargue S, Boutroy S, Basmaison O, Vilayphiou N, Plotton I, Guebre-Egziabher F, Dohin B, Kohler R, Cochat P (2010) Bone metabolism in oxalosis: a single-center study using new imaging techniques and biomarkers. Pediatr Nephrol 25:1081–1089

    Article  PubMed  Google Scholar 

  47. Tonnelet D, Benali K, Rasmussen C, Goulenok T, Piekarski E (2020) Diffuse hypermetabolic bone marrow infiltration in severe primary hyperoxaluria on FDG PET. Clin Nucl Med 45(6):e296–e298

    Article  PubMed  Google Scholar 

  48. Bacchetta J, Boivin G, Cochat P (2016) Bone impairment in primary hyperoxaluria: a review. Pediatr Nephrol 31:1–6

    Article  PubMed  Google Scholar 

  49. Monico CG, Rossetti S, Olson JB, Milliner DS (2005) Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele. Kidney Int 67:1704–1709

    Article  CAS  PubMed  Google Scholar 

  50. Lorenz EC, Lieske JC, Seide BM, Meek AM, Olson JB, Bergstralh EJ, Milliner DS (2014) Sustained pyridoxine response in primary hyperoxaluria type 1 recipients of kidney alone transplant. Am J Transplant 14:1433–1438

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  51. Hopp K, Cogal AG, Bergstralh EJ, Seide BM, Olson JB, Meek AM, Lieske JC, Milliner DS, Harris PC; Rare Kidney Stone Consortium (2015) Phenotype-genotype correlations and estimated carrier frequencies of primary hyperoxaluria. J Am Soc Nephrol 26:2559–2570

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  52. Mandrile G, Beck B, Acquaviva C, Rumsby G, Deesker L, Garrelfs S, Gupta A, Bacchetta J, Groothoff J; OxalEurope Consortium/Erknet Guideline Workgroup On Hyperoxaluria (2022) Genetic assessment in primary hyperoxaluria: why it matters. Pediatr Nephrol 38:625-634

  53. Milliner DS, Eickholt JT, Bergstralh EJ, Wilson DM, Smith LH (1994) Results of long-term treatment with orthophosphate and pyridoxine in patients with primary hyperoxaluria. N Engl J Med 331:1553–1558

    Article  CAS  PubMed  Google Scholar 

  54. Berini SE, Tracy JA, Engelstad JK, Lorenz EC, Milliner DS, Dyck PJ (2015) Progressive polyradiculoneuropathy due to intraneural oxalate deposition in type 1 primary hyperoxaluria. Muscle Nerve 51:449–454

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  55. Biebuyck N, Destombes C, Prakash R, Boyer O (2023) Is withdrawal of nocturnal hyperhydration possible in children with primary hyperoxaluria treated with RNAi? J Nephrol 36:1473–1476

    Article  CAS  PubMed  Google Scholar 

  56. Baum MA, Langman C, Cochat P, Lieske JC, Moochhala SH, Hamamoto S, Satoh H, Mourani C, Ariceta G, Torres A, Wolley M, Belostotsky V, Forbes TA, Groothoff J, Hayes W, Tönshoff B, Takayama T, Rosskamp R, Russell K, Zhou J, Amrite A, Hoppe B; PHYOX2 study investigators (2023) PHYOX2: a pivotal randomized study of nedosiran in primary hyperoxaluria type 1 or 2. Kidney Int 103:207–217

  57. Martin-Higueras C, Feldkötter M, Hoppe B (2021) Is stiripentol truly effective for treating primary hyperoxaluria? Clin Kidney J 14:442–444

    Article  PubMed  Google Scholar 

  58. Martinez-Turrillas R, Martin-Mallo A, Rodriguez-Diaz S, Zapata-Linares N, Rodriguez-Marquez P, San Martin-Uriz P, Vilas-Zornoza A, Calleja-Cervantes ME, Salido E, Prosper F, Rodriguez-Madoz JR (2022) CRISPR-Cas9 inhibition of hepatic LDH as treatment of primary hyperoxaluria. Mol Ther Methods Clin Dev 25:137–146

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  59. Sellier-Leclerc AL, Metry E, Clave S, Perrin P, Acquaviva-Bourdain C, Levi C, Crop M, Caillard S, Moulin B, Groothoff J, Bacchetta J (2023) Isolated kidney transplantation under lumasiran therapy in primary hyperoxaluria type 1: a report of five cases. Nephrol Dial Transplant 38:517–521

    Article  PubMed  Google Scholar 

  60. Breeggemann MC, Gluck SL, Stoller ML, Lee MM (2023) A case report of kidney-only transplantation in primary hyperoxaluria type 1: a novel approach with the use of nedosiran. Case Rep Nephrol Dial 13:63–69

    Article  PubMed  PubMed Central  Google Scholar 

  61. Zhao F, Bergstralh EJ, Mehta RA, Vaughan LE, Olson JB, Seide BM, Meek AM, Cogal AG, Lieske JC, Milliner DS; Investigators of Rare Kidney Stone Consortium (2016) Predictors of incident ESRD among patients with primary hyperoxaluria presenting prior to kidney failure. Clin J Am Soc Nephrol 11:119–126

    Article  CAS  PubMed  Google Scholar 

  62. Shah RJ, Vaughan LE, Enders FT, Milliner DS, Lieske JC (2020) Plasma oxalate as a predictor of kidney function decline in a primary hyperoxaluria cohort. Int J Mol Sci 21:3608

  63. Watts RW, Veall N, Purkiss P (1984) Oxalate dynamics and removal rates during haemodialysis and peritoneal dialysis in patients with primary hyperoxaluria and severe renal failure. Clin Sci (Lond) 66:591–597

    Article  CAS  PubMed  Google Scholar 

  64. Marangella M, Cosseddu D, Petrarulo M, Vitale C, Linari F (1993) Thresholds of serum calcium oxalate supersaturation in relation to renal function in patients with or without primary hyperoxaluria. Nephrol Dial Transplant 8:1333–1337

    CAS  PubMed  Google Scholar 

  65. Marangella M, Petrarulo M, Cosseddu D, Vitale C, Linari F (1992) Oxalate balance studies in patients on hemodialysis for type I primary hyperoxaluria. Am J Kidney Dis 19:546–553

    Article  CAS  PubMed  Google Scholar 

  66. Illies F, Bonzel KE, Wingen AM, Latta K, Hoyer PF (2006) Clearance and removal of oxalate in children on intensified dialysis for primary hyperoxaluria type 1. Kidney Int 70:1642–1648

    Article  CAS  PubMed  Google Scholar 

  67. Ermer T, Kopp C, Asplin JR, Granja I, Perazella MA, Reichel M, Nolin TD, Eckardt KU, Aronson PS, Finkelstein FO, Knauf F (2017) Impact of regular or extended hemodialysis and hemodialfiltration on plasma oxalate concentrations in patients with end-stage renal disease. Kidney Int Rep 2:1050–1058

    Article  PubMed  PubMed Central  Google Scholar 

  68. Franssen CF (2005) Oxalate clearance by haemodialysis–a comparison of seven dialysers. Nephrol Dial Transplant 20:1916–1921

    Article  CAS  PubMed  Google Scholar 

  69. Tang X, Bergstralh EJ, Mehta RA, Vrtiska TJ, Milliner DS, Lieske JC (2015) Nephrocalcinosis is a risk factor for kidney failure in primary hyperoxaluria. Kidney Int 87:623–631

    Article  CAS  PubMed  Google Scholar 

  70. Díaz C, Catalinas FG, de Alvaro F, Torre A, Sánchez C, Costero O (2004) Long daily hemodialysis sessions correct systemic complications of oxalosis prior to combined liver-kidney transplantation: case report. Ther Apher Dial 8:52–55

    Article  PubMed  Google Scholar 

  71. Plumb TJ, Swee ML, Fillaus JA (2013) Nocturnal home hemodialysis for a patient with type 1 hyperoxaluria. Am J Kidney Dis 62:1155–1159

    Article  PubMed  Google Scholar 

  72. Yamauchi T, Quillard M, Takahashi S, Nguyen-Khoa M (2001) Oxalate removal by daily dialysis in a patient with primary hyperoxaluria type 1. Nephrol Dial Transplant 16:2407–2411

    Article  CAS  PubMed  Google Scholar 

  73. Tang X, Voskoboev NV, Wannarka SL, Olson JB, Milliner DS, Lieske JC (2014) Oxalate quantification in hemodialysate to assess dialysis adequacy for primary hyperoxaluria. Am J Nephrol 39:376–382

    Article  CAS  PubMed  Google Scholar 

  74. Cochat P, Fargue S, Harambat J (2010) Primary hyperoxaluria type 1: strategy for organ transplantation. Curr Opin Organ Transplant 15:590–593

    Article  PubMed  Google Scholar 

  75. Cornell LD, Amer H, Viehman JK, Mehta RA, Lieske JC, Lorenz EC, Heimbach JK, Stegall MD, Milliner DS; Rare Kidney Stone Consortium Primary Hyperoxaluria (RKSC PH) investigators (2022) Posttransplant recurrence of calcium oxalate crystals in patients with primary hyperoxaluria: incidence, risk factors, and effect on renal allograft function. Am J Transplant 22:85–95

    Article  CAS  PubMed  Google Scholar 

  76. Villani V, Gupta N, Elias N, Vagefi PA, Markmann JF, Paul E, Traum AZ, Yeh H (2017) Bilateral native nephrectomy reduces systemic oxalate level after combined liver-kidney transplant: a case report. Pediatr Transplant 21(3).

  77. Mor E, Nesher E, Ben-Ari Z, Weissman I, Shaharabani E, Eizner S, Solomonov E, Rahamimov R, Braun M (2013) Sequential liver and kidney transplantation from a single living donor in two young adults with primary hyperoxaluria type 1. Liver Transpl 19:646–648

    Article  PubMed  Google Scholar 

  78. Metry EL, van Dijk LMM, Peters-Sengers H, Oosterveld MJS, Groothoff JW, Ploeg RJ, Stel VS, Garrelfs SF (2021) Transplantation outcomes in patients with primary hyperoxaluria: a systematic review. Pediatr Nephrol 36:2217–2226

    Article  PubMed  PubMed Central  Google Scholar 

  79. Xiang J, Chen Z, Xu F, Mei S, Li Z, Zhou J, Dong Y, Gu Y, Huang Z, Hu Z (2020) Outcomes of liver-kidney transplantation in patients with primary hyperoxaluria: an analysis of the scientific registry of transplant recipients database. BMC Gastroenterol 20:208

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  80. Dhondup T, Lorenz EC, Milliner DS, Lieske JC. (2018) Combined liver-kidney transplantation for primary hyperoxaluria type 2: a case report. Am J Transplant 18:253–257

    Article  CAS  PubMed  Google Scholar 

  81. Bergstralh EJ, Monico CG, Lieske JC, Herges RM, Langman CB, Hoppe B, Milliner DS; IPHR Investigators (2010) Transplantation outcomes in primary hyperoxaluria. Am J Transplant 10:2493–2501

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  82. Devresse A, Cochat P, Godefroid N, Kanaan N (2020) Transplantation for primary hyperoxaluria type 1: designing new strategies in the era of promising therapeutic perspectives. Kidney Int Rep 5:2136–2145

    Article  PubMed  PubMed Central  Google Scholar 

  83. Lee E, Ramos-Gonzalez G, Rodig N, Elisofon S, Vakili K, Kim HB (2018) Bilateral native nephrectomy to reduce oxalate stores in children at the time of combined liver–kidney transplantation for primary hyperoxaluria type 1. Pediatr Nephrol 33:881–887

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Acknowledgements

We are grateful to the Oxalosis and Hyperoxaluria Foundation for convening the panel of international experts in PH. Kim Hollander, Executive Director, and Julie Bertarelli, Operations Coordinator, provided invaluable guidance and administrative support. We thank Maya Vaishnaw for design assistance with the diagnostic algorithm and graphic abstract.

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Authors and Affiliations

  1. Division of Pediatric Nephrology, Baylor College of Medicine, Texas Children’s Hospital, Houston, USA

    Mini Michael

  2. Division of Pediatric Nephrology, Hospital for Sick Children, University of Toronto, Toronto, Canada

    Elizabeth Harvey

  3. Pediatrics and Medicine, Mayo Clinic, Rochester, USA

    Dawn S. Milliner

  4. Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel

    Yaacov Frishberg

  5. Division of Pediatric Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA

    David J. Sas

  6. Department of Kidney Medicine, Cleveland Clinic, Cleveland, USA

    Juan Calle

  7. Division of Nephrology, The Children’s Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA

    Lawrence Copelovitch

  8. Department of Urology, University of Wisconsin School of Medicine, Madison, USA

    Kristina L. Penniston

  9. Division of Pediatric Nephrology and Hypertension, Mount Sinai Kravis Children’s Hospital, New York, NY, USA

    Jeffrey Saland

  10. Division of Nephrology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA

    Michael J. G. Somers & Michelle A. Baum

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Correspondence to Mini Michael.

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Conflict of interest

MM: Alnylam Pharmaceuticals-served as site PI for use of lumasiran for PH1; PI longitudinal study (BONAPH1DE); Novo Nordisk Inc: served in the advisory board; EH: Research funding: Dicerna; Consulting fees, Advisory Board chair, speaker fees and travel funding from Alnylam; Consulting fees from Arbor Biotechnologies; DM: Research funding—Dicerna, Alnylam, OxThera; Advisory Boards—Synlogic, Mirum Pharmaceuticals, Consulting agreements—Oxthera, Dicerna, Alnylam; YF: Alnylam – consulting fees, research funding; Dicerna – travel grant to attend investigators’ meeting; DJS: Received grant funding for research from Alnylam and Dicerna Pharmaceuticals; JC: None; LC: Nuwellis-Consultant; KP: None; JS: Alynylam: research funding, consulting fees, NovoNordisk: scientific advisory; MJGS: Advisory Boards for Alnylam Pharmaceuticals, Cantero Therapeutics, Dicerna Pharmaceuticals, and BioPorto. Chairs a Data Safety Monitoring Board for a clinical trial for Dicerna. Member of the Scientific Advisory Board of the Oxalosis and Hyperoxaluria Foundation; MAB: Novo Nordisk (previously Dicerna): scientific advisory, PI clinical trial Nedosiran; Alnylam: scientific advisory, PI longitudinal study (BONAPH1DE); Chinook: scientific advisory; Cantero (previously Orfan): scientific advisory; UpToDate: author and section editor.

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Michael J. G. Somers and Michelle A. Baum contributed equally as final or last authors.

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Michael, M., Harvey, E., Milliner, D.S. et al. Diagnosis and management of primary hyperoxalurias: best practices. Pediatr Nephrol (2024). https://doi.org/10.1007/s00467-024-06328-2

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