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Primary hyperoxaluria type 3(HP3)

MedGen UID:
462228
Concept ID:
C3150878
Disease or Syndrome
Synonyms: PH III; Primary hyperoxaluria, type III
SNOMED CT: Primary hyperoxaluria type 3 (734990008); Primary hyperoxaluria type III (734990008)
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).
 
Gene (location): HOGA1 (10q24.2)
 
Monarch Initiative: MONDO:0013327
OMIM®: 613616
Orphanet: ORPHA93600

Definition

Primary hyperoxaluria is an autosomal recessive disorder of glyoxylate metabolism that results in excessive endogenous oxalate synthesis and the formation of calcium oxalate kidney stones. Progressive renal inflammation and interstitial fibrosis from advanced nephrocalcinosis, recurrent urolithiasis, and urinary tract infections can cause reduced renal function, systemic oxalate deposition, and end-stage renal failure. Compared to hyperoxaluria type I (HP1; 259900) and type II (HP2; 260000), HP3 appears to be the least severe, with good preservation of kidney function in most patients. The typical clinical characteristic is early onset of recurrent urolithiasis, but less active stone formation later (summary by Wang et al., 2015). For a discussion of genetic heterogeneity of primary hyperoxaluria, see 259900. [from OMIM]

Additional description

From MedlinePlus Genetics
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.

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.

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.  https://medlineplus.gov/genetics/condition/primary-hyperoxaluria

Clinical features

From HPO
Hyperoxaluria
MedGen UID:
43782
Concept ID:
C0020500
Disease or Syndrome
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.\n\nPrimary 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.\n\nThere 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.
Nephrolithiasis, calcium oxalate
MedGen UID:
318935
Concept ID:
C1833683
Disease or Syndrome
Kleta (2006) reviewed aspects of renal stone disease. Nephrolithiasis and urolithiasis remain major public health problems of largely unknown cause. While disorders such as cystinuria (220100) and primary hyperoxaluria (see 259900) that have nephrolithiasis as a major feature have advanced understanding of the metabolic and physiologic processes of stone formation in general, they have not addressed the etiology of calcium oxalate stone formation, responsible for approximately 75% of urolithiasis cases in humans. Men are affected twice as often as women, but children show no such gender bias. The recurrence rate is also high. In populations of European ancestry, 5 to 10% of adults experience the painful precipitation of calcium oxalate in their urinary tracts. Thorleifsson et al. (2009) noted that between 35 and 65% of hypercalciuric stone formers and up to 70% of subjects with hypercalciuria have relatives with nephrolithiasis, and twin studies have estimated the heritability of kidney stones to be 56%. Genetic Heterogeneity of Calcium Oxalate Nephrolithiasis See also CAON2 (620374), caused by mutation in the OXGR1 gene (606922) on chromosome 13q32.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Primary hyperoxaluria type 3 in Orphanet.

Professional guidelines

PubMed

Ge Y, Liu Y, Zhan R, Zhao Z, Li J, Wang W, Tian Y
World J Urol 2023 Aug;41(8):2141-2148. Epub 2023 Jun 15 doi: 10.1007/s00345-023-04461-5. PMID: 37318624

Recent clinical studies

Etiology

Ge Y, Liu Y, Zhan R, Zhao Z, Li J, Wang W, Tian Y
World J Urol 2023 Aug;41(8):2141-2148. Epub 2023 Jun 15 doi: 10.1007/s00345-023-04461-5. PMID: 37318624
Arnous MG, Vaughan L, Mehta RA, Schulte PJ, Lieske JC, Milliner DS
J Urol 2023 Jun;209(6):1141-1150. Epub 2023 Mar 8 doi: 10.1097/JU.0000000000003400. PMID: 36888927
Singh P, Granberg CF, Harris PC, Lieske JC, Licht JH, Weiss A, Milliner DS
Am J Kidney Dis 2022 Jan;79(1):125-128. Epub 2021 Jul 7 doi: 10.1053/j.ajkd.2021.05.016. PMID: 34245816Free PMC Article
Martin-Higueras C, Garrelfs SF, Groothoff JW, Jacob DE, Moochhala SH, Bacchetta J, Acquaviva C, Zaniew M, Sikora P, Beck BB, Hoppe B
Kidney Int 2021 Sep;100(3):621-635. Epub 2021 Apr 16 doi: 10.1016/j.kint.2021.03.031. PMID: 33865885
Allard L, Cochat P, Leclerc AL, Cachat F, Fichtner C, De Souza VC, Garcia CD, Camoin-Schweitzer MC, Macher MA, Acquaviva-Bourdain C, Bacchetta J
Pediatr Nephrol 2015 Oct;30(10):1807-13. Epub 2015 May 14 doi: 10.1007/s00467-015-3090-x. PMID: 25972204

Diagnosis

Ge Y, Liu Y, Zhan R, Zhao Z, Li J, Wang W, Tian Y
World J Urol 2023 Aug;41(8):2141-2148. Epub 2023 Jun 15 doi: 10.1007/s00345-023-04461-5. PMID: 37318624
Singh P, Granberg CF, Harris PC, Lieske JC, Licht JH, Weiss A, Milliner DS
Am J Kidney Dis 2022 Jan;79(1):125-128. Epub 2021 Jul 7 doi: 10.1053/j.ajkd.2021.05.016. PMID: 34245816Free PMC Article
Singh P, Viehman JK, Mehta RA, Cogal AG, Hasadsri L, Oglesbee D, Olson JB, Seide BM, Sas DJ, Harris PC, Lieske JC, Milliner DS
Nephrol Dial Transplant 2022 Apr 25;37(5):869-875. doi: 10.1093/ndt/gfab027. PMID: 33543760Free PMC Article
Greed L, Willis F, Johnstone L, Teo S, Belostotsky R, Frishberg Y, Pitt J
Pediatr Nephrol 2018 Aug;33(8):1443-1446. Epub 2018 Apr 28 doi: 10.1007/s00467-018-3967-6. PMID: 29705963
Allard L, Cochat P, Leclerc AL, Cachat F, Fichtner C, De Souza VC, Garcia CD, Camoin-Schweitzer MC, Macher MA, Acquaviva-Bourdain C, Bacchetta J
Pediatr Nephrol 2015 Oct;30(10):1807-13. Epub 2015 May 14 doi: 10.1007/s00467-015-3090-x. PMID: 25972204

Prognosis

Allard L, Cochat P, Leclerc AL, Cachat F, Fichtner C, De Souza VC, Garcia CD, Camoin-Schweitzer MC, Macher MA, Acquaviva-Bourdain C, Bacchetta J
Pediatr Nephrol 2015 Oct;30(10):1807-13. Epub 2015 May 14 doi: 10.1007/s00467-015-3090-x. PMID: 25972204

Clinical prediction guides

Ge Y, Liu Y, Zhan R, Zhao Z, Li J, Wang W, Tian Y
World J Urol 2023 Aug;41(8):2141-2148. Epub 2023 Jun 15 doi: 10.1007/s00345-023-04461-5. PMID: 37318624
Singh P, Granberg CF, Harris PC, Lieske JC, Licht JH, Weiss A, Milliner DS
Am J Kidney Dis 2022 Jan;79(1):125-128. Epub 2021 Jul 7 doi: 10.1053/j.ajkd.2021.05.016. PMID: 34245816Free PMC Article
Martin-Higueras C, Garrelfs SF, Groothoff JW, Jacob DE, Moochhala SH, Bacchetta J, Acquaviva C, Zaniew M, Sikora P, Beck BB, Hoppe B
Kidney Int 2021 Sep;100(3):621-635. Epub 2021 Apr 16 doi: 10.1016/j.kint.2021.03.031. PMID: 33865885
Bar R, Ben-Shalom E, Duvdevani M, Belostotsky R, Pollak MR, Mount DB, Bar-Gal R, Gnessin E, Tzur S, Curhan GC, Frishberg Y
J Urol 2021 May;205(5):1394-1399. Epub 2020 Dec 22 doi: 10.1097/JU.0000000000001528. PMID: 33350326

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