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Primary hyperoxaluria

MedGen UID:
5697
Concept ID:
C0020501
Disease or Syndrome
Synonyms: Hyperoxaluria, Primary; Hyperoxalurias, Primary; Oxaluria, Primary; Oxalurias, Primary; Primary Hyperoxaluria; Primary Hyperoxalurias; Primary Oxaluria; Primary Oxalurias
SNOMED CT: Primary hyperoxaluria (17901006); Primary oxalosis (17901006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Related genes: HOGA1, GRHPR, AGXT
 
Monarch Initiative: MONDO:0002474
OMIM® Phenotypic series: PS259900
Orphanet: ORPHA416

Definition

There are three types of primary hyperoxaluria that differ in their severity and genetic cause. In primary hyperoxaluria type 1, kidney stones typically begin to appear anytime from childhood to early adulthood, and ESRD can develop at any age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later in life. In primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this type have been described so additional signs and symptoms of this type are unclear.

Primary hyperoxaluria results from the overproduction of a substance called oxalate. Oxalate is filtered through the kidneys and excreted as a waste product in urine, leading to abnormally high levels of this substance in urine (hyperoxaluria). During its excretion, oxalate can combine with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Deposits of calcium oxalate can damage the kidneys and other organs and lead to blood in the urine (hematuria), urinary tract infections, kidney damage, ESRD, and injury to other organs. Over time, kidney function decreases such that the kidneys can no longer excrete as much oxalate as they receive. As a result oxalate levels in the blood rise, and the substance gets deposited in tissues throughout the body (systemic oxalosis), particularly in bones and the walls of blood vessels. Oxalosis in bones can cause fractures.

Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively. [from MedlinePlus Genetics]

Professional guidelines

PubMed

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
Nat Rev Nephrol 2023 Mar;19(3):194-211. Epub 2023 Jan 5 doi: 10.1038/s41581-022-00661-1. PMID: 36604599
Demoulin N, Aydin S, Gillion V, Morelle J, Jadoul M
Am J Kidney Dis 2022 May;79(5):717-727. Epub 2021 Sep 9 doi: 10.1053/j.ajkd.2021.07.018. PMID: 34508834
Hopp K, Cogal AG, Bergstralh EJ, Seide BM, Olson JB, Meek AM, Lieske JC, Milliner DS, Harris PC; Rare Kidney Stone Consortium
J Am Soc Nephrol 2015 Oct;26(10):2559-70. Epub 2015 Feb 2 doi: 10.1681/ASN.2014070698. PMID: 25644115Free PMC Article

Suggested Reading

PubMed

Cochat P, Rumsby G
N Engl J Med 2013 Aug 15;369(7):649-58. doi: 10.1056/NEJMra1301564. PMID: 23944302

Recent clinical studies

Etiology

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
Nat Rev Nephrol 2023 Mar;19(3):194-211. Epub 2023 Jan 5 doi: 10.1038/s41581-022-00661-1. PMID: 36604599
Michael M, Bagga A, Sartain SE, Smith RJH
Lancet 2022 Nov 12;400(10364):1722-1740. Epub 2022 Oct 19 doi: 10.1016/S0140-6736(22)01202-8. PMID: 36272423
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
N Engl J Med 2021 Apr 1;384(13):1216-1226. doi: 10.1056/NEJMoa2021712. PMID: 33789010
Howles SA, Thakker RV
Nat Rev Urol 2020 Jul;17(7):407-421. Epub 2020 Jun 12 doi: 10.1038/s41585-020-0332-x. PMID: 32533118
Hopp K, Cogal AG, Bergstralh EJ, Seide BM, Olson JB, Meek AM, Lieske JC, Milliner DS, Harris PC; Rare Kidney Stone Consortium
J Am Soc Nephrol 2015 Oct;26(10):2559-70. Epub 2015 Feb 2 doi: 10.1681/ASN.2014070698. PMID: 25644115Free PMC Article

Diagnosis

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
Nat Rev Nephrol 2023 Mar;19(3):194-211. Epub 2023 Jan 5 doi: 10.1038/s41581-022-00661-1. PMID: 36604599
Xie X, Zhang X
N Engl J Med 2022 Mar 10;386(10):976. Epub 2022 Mar 5 doi: 10.1056/NEJMicm2113369. PMID: 35245013
Demoulin N, Aydin S, Gillion V, Morelle J, Jadoul M
Am J Kidney Dis 2022 May;79(5):717-727. Epub 2021 Sep 9 doi: 10.1053/j.ajkd.2021.07.018. PMID: 34508834
Dimer NW, Schuck PF, Streck EL, Ferreira GC
An Acad Bras Cienc 2015 Aug;87(2 Suppl):1409-14. Epub 2015 Aug 4 doi: 10.1590/0001-3765201520150021. PMID: 26247153
Cochat P, Rumsby G
N Engl J Med 2013 Aug 15;369(7):649-58. doi: 10.1056/NEJMra1301564. PMID: 23944302

Therapy

Egli M, Manoharan M
Nucleic Acids Res 2023 Apr 11;51(6):2529-2573. doi: 10.1093/nar/gkad067. PMID: 36881759Free PMC Article
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
Am J Kidney Dis 2023 Feb;81(2):145-155.e1. Epub 2022 Jul 14 doi: 10.1053/j.ajkd.2022.05.012. PMID: 35843439
Friedrich M, Aigner A
BioDrugs 2022 Sep;36(5):549-571. Epub 2022 Aug 23 doi: 10.1007/s40259-022-00549-3. PMID: 35997897Free PMC Article
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
N Engl J Med 2021 Apr 1;384(13):1216-1226. doi: 10.1056/NEJMoa2021712. PMID: 33789010
Lorenzo V, Torres A, Salido E
Nefrologia 2014 May 21;34(3):398-412. Epub 2014 Apr 30 doi: 10.3265/Nefrologia.pre2014.Jan.12335. PMID: 24798559

Prognosis

Demoulin N, Aydin S, Gillion V, Morelle J, Jadoul M
Am J Kidney Dis 2022 May;79(5):717-727. Epub 2021 Sep 9 doi: 10.1053/j.ajkd.2021.07.018. PMID: 34508834
McDougall R, Ramsden D, Agarwal S, Agarwal S, Aluri K, Arciprete M, Brown C, Castellanos-Rizaldos E, Charisse K, Chong S, Cichocki J, Fitzgerald K, Goel V, Gu Y, Guenther D, Habtemariam B, Jadhav V, Janas M, Jayaraman M, Kurz J, Li J, Liu J, Liu X, Liou S, Maclauchlin C, Maier M, Manoharan M, Nair JK, Robbie G, Schmidt K, Smith P, Theile C, Vaishnaw A, Waldron S, Xu Y, Zhang X, Zlatev I, Wu JT
Drug Metab Dispos 2022 Jun;50(6):781-797. Epub 2021 Jun 21 doi: 10.1124/dmd.121.000428. PMID: 34154993
Capolongo G, Zacchia M, Perna A, Viggiano D, Capasso G
Urolithiasis 2019 Feb;47(1):91-98. Epub 2018 Dec 18 doi: 10.1007/s00240-018-01104-y. PMID: 30564846
Hopp K, Cogal AG, Bergstralh EJ, Seide BM, Olson JB, Meek AM, Lieske JC, Milliner DS, Harris PC; Rare Kidney Stone Consortium
J Am Soc Nephrol 2015 Oct;26(10):2559-70. Epub 2015 Feb 2 doi: 10.1681/ASN.2014070698. PMID: 25644115Free PMC Article
Scheinman SJ
Semin Nephrol 1999 Jul;19(4):381-8. PMID: 10435676

Clinical prediction guides

Barbour SJ, Coppo R, Er L, Pillebout E, Russo ML, Alpers CE, Fogo AB, Ferrario F, Jennette JC, Roberts ISD, Cook HT, Ding J, Su B, Zhong X, Fervenza FC, Zand L, Peruzzi L, Lucchetti L, Katafuchi R, Shima Y, Yoshikawa N, Ichikawa D, Suzuki Y, Murer L, Wyatt RJ, Park C, Nelson RD, Narus JH, Wenderfer S, Geetha D, Daugas E, Monteiro RC, Nakatani S, Mastrangelo A, Nuutinen M, Koskela M, Weber LT, Hackl A, Pohl M, Pecoraro C, Tsuboi N, Yokoo T, Takafumi I, Fujimoto S, Conti G, Santoro D, Materassi M, Zhang H, Shi S, Liu ZH, Tesar V, Maixnerova D, Avila-Casado C, Bajema I, Barreca A, Becker JU, Comstock JM, Cornea V, Eldin K, Hernandez LH, Hou J, Joh K, Lin M, Messias N, Muda AO, Pagni F, Diomedi-Camassei F, Tokola H, D'Armiento M, Seidl M, Rosenberg A, Sannier A, Soares MF, Wang S, Zeng C, Haas M
Clin J Am Soc Nephrol 2024 Apr 1;19(4):438-451. Epub 2024 Jan 23 doi: 10.2215/CJN.0000000000000398. PMID: 38261310Free PMC Article
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
Am J Kidney Dis 2023 Feb;81(2):145-155.e1. Epub 2022 Jul 14 doi: 10.1053/j.ajkd.2022.05.012. PMID: 35843439
McDougall R, Ramsden D, Agarwal S, Agarwal S, Aluri K, Arciprete M, Brown C, Castellanos-Rizaldos E, Charisse K, Chong S, Cichocki J, Fitzgerald K, Goel V, Gu Y, Guenther D, Habtemariam B, Jadhav V, Janas M, Jayaraman M, Kurz J, Li J, Liu J, Liu X, Liou S, Maclauchlin C, Maier M, Manoharan M, Nair JK, Robbie G, Schmidt K, Smith P, Theile C, Vaishnaw A, Waldron S, Xu Y, Zhang X, Zlatev I, Wu JT
Drug Metab Dispos 2022 Jun;50(6):781-797. Epub 2021 Jun 21 doi: 10.1124/dmd.121.000428. PMID: 34154993
Hopp K, Cogal AG, Bergstralh EJ, Seide BM, Olson JB, Meek AM, Lieske JC, Milliner DS, Harris PC; Rare Kidney Stone Consortium
J Am Soc Nephrol 2015 Oct;26(10):2559-70. Epub 2015 Feb 2 doi: 10.1681/ASN.2014070698. PMID: 25644115Free PMC Article
Lorenzo V, Torres A, Salido E
Nefrologia 2014 May 21;34(3):398-412. Epub 2014 Apr 30 doi: 10.3265/Nefrologia.pre2014.Jan.12335. PMID: 24798559

Recent systematic reviews

Metry EL, van Dijk LMM, Peters-Sengers H, Oosterveld MJS, Groothoff JW, Ploeg RJ, Stel VS, Garrelfs SF
Pediatr Nephrol 2021 Aug;36(8):2217-2226. Epub 2021 Apr 8 doi: 10.1007/s00467-021-05043-6. PMID: 33830344Free PMC Article
Du DF, Li QQ, Chen C, Shi SM, Zhao YY, Jiang JP, Wang DW, Guo H, Zhang WJ, Chen ZS
Curr Med Sci 2018 Oct;38(5):749-757. Epub 2018 Oct 20 doi: 10.1007/s11596-018-1941-y. PMID: 30341509

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