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 

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 

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 

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 

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 

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 

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

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

Article  PubMed  PubMed Central  Google Scholar 

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 

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 

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

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 

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 

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 

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 

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 

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 

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 

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 

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

Article  PubMed  Google Scholar 

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 

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 

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

CAS  PubMed  Google Scholar 

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 

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 

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 

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 

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 

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 

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 

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 

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