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Calcium oxalate urolithiasis

MedGen UID:
318935
Concept ID:
C1833683
Disease or Syndrome
Synonym: Calcium oxalate nephrolithiasis
SNOMED CT: Calcium oxalate urolithiasis (444717006)
 
Related genes: OXGR1, SLC26A1
 
HPO: HP:0008672
Monarch Initiative: MONDO:0957318
OMIM®: 167030
OMIM® Phenotypic series: PS167030

Definition

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. [from OMIM]

Conditions with this feature

Primary hyperoxaluria, type I
MedGen UID:
75658
Concept ID:
C0268164
Disease or Syndrome
Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver peroxisomal enzyme alanine:glyoxylate-aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is absent, glyoxylate is converted to oxalate, which forms insoluble calcium oxalate crystals that accumulate in the kidney and other organs. Individuals with PH1 are at risk for recurrent nephrolithiasis (deposition of calcium oxalate in the renal pelvis / urinary tract), nephrocalcinosis (deposition of calcium oxalate in the renal parenchyma), or end-stage renal disease (ESRD). Age at onset of symptoms ranges from infancy to the sixth decade. Approximately 10% of affected individuals present in infancy or early childhood with nephrocalcinosis, with or without nephrolithiasis, and failure to thrive related to renal failure. The majority of individuals with PH1 present in childhood or early adolescence, usually with symptomatic nephrolithiasis and normal or reduced kidney function. The remainder of affected individuals present in adulthood with recurrent renal stones and a mild-to-moderate reduction in kidney function. The natural history of untreated PH1 is one of progressive decline in renal function as a result of calcium oxalate deposits in kidney tissue and complications of nephrolithiasis (e.g., obstruction and infection) with eventual progression to oxalosis (widespread tissue deposition of calcium oxalate) and death from ESRD and/or complications of oxalosis.
Primary hyperoxaluria, type II
MedGen UID:
120616
Concept ID:
C0268165
Disease or Syndrome
Primary hyperoxaluria type 2 (PH2), caused by deficiency of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GR/HPR), is characterized by recurrent nephrolithiasis (deposition of calcium oxalate in the renal pelvis/urinary tract), nephrocalcinosis (deposition of calcium oxalate in the renal parenchyma), and end-stage renal disease (ESRD). After ESRD, oxalosis (widespread tissue deposition of calcium oxalate) usually develops. Symptom onset is typically in childhood.
5-Oxoprolinase deficiency
MedGen UID:
82814
Concept ID:
C0268525
Disease or Syndrome
5-Oxoprolinuria can be caused by genetic defects in either of 2 enzymes involved in the gamma-glutamyl cycle of glutathione metabolism: glutathione synthetase (GSS; 601002) or 5-oxoprolinase (OPLAH; 614243). GSS deficiency (266130) is best characterized as an inborn error of glutathione metabolism, but there is debate as to whether OPLAH deficiency represents a disorder or simply a biochemical condition with no adverse clinical effects because patients lack a consistent clinical picture apart from 5-oxoprolinuria (summary by Calpena et al., 2013).
Familial idiopathic hypercalciuria
MedGen UID:
137974
Concept ID:
C0342639
Congenital Abnormality
Hyperglycinuria
MedGen UID:
107456
Concept ID:
C0543541
Disease or Syndrome
The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG; 242600), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG) (summary by Broer et al., 2008). A phenotype of combined glucosuria and glycinuria has been described (see 138070).
Primary hyperoxaluria type 3
MedGen UID:
462228
Concept ID:
C3150878
Disease or Syndrome
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.
Macrocephaly/megalencephaly syndrome, autosomal recessive
MedGen UID:
812742
Concept ID:
C3806412
Disease or Syndrome
Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).
Nephrolithiasis susceptibility caused by SLC26A1
MedGen UID:
1830325
Concept ID:
C5779632
Disease or Syndrome

Professional guidelines

PubMed

Hulton SA
Int J Surg 2016 Dec;36(Pt D):649-654. Epub 2016 Nov 1 doi: 10.1016/j.ijsu.2016.10.039. PMID: 27815184
Lewandowski S, Rodgers AL
Clin Chim Acta 2004 Jul;345(1-2):17-34. doi: 10.1016/j.cccn.2004.03.009. PMID: 15193974
Gerstenbluth RE, Resnick MI
Med Clin North Am 2004 Mar;88(2):431-42. doi: 10.1016/S0025-7125(03)00171-8. PMID: 15049586

Recent clinical studies

Etiology

Aihemaitijiang B, Ruotian L, Qi Y, Mahemuti M
Int Urol Nephrol 2023 Jul;55(7):1671-1676. Epub 2023 May 17 doi: 10.1007/s11255-023-03615-z. PMID: 37198517
Wigner P, Bijak M, Saluk-Bijak J
Cells 2022 Jan 14;11(2) doi: 10.3390/cells11020284. PMID: 35053400Free PMC Article
Moe OW, Xu LHR
J Nephrol 2018 Apr;31(2):189-196. Epub 2018 Jan 24 doi: 10.1007/s40620-018-0469-3. PMID: 29368300
Lewandowski S, Rodgers AL
Clin Chim Acta 2004 Jul;345(1-2):17-34. doi: 10.1016/j.cccn.2004.03.009. PMID: 15193974
Ruml LA, Pearle MS, Pak CY
Urol Clin North Am 1997 Feb;24(1):117-33. doi: 10.1016/s0094-0143(05)70358-x. PMID: 9048856

Diagnosis

Aihemaitijiang B, Ruotian L, Qi Y, Mahemuti M
Int Urol Nephrol 2023 Jul;55(7):1671-1676. Epub 2023 May 17 doi: 10.1007/s11255-023-03615-z. PMID: 37198517
Wigner P, Bijak M, Saluk-Bijak J
Cells 2022 Jan 14;11(2) doi: 10.3390/cells11020284. PMID: 35053400Free PMC Article
Ahmed S, Hasan MM, Khan H, Mahmood ZA, Patel S
Biomed Pharmacother 2018 Oct;106:1292-1299. Epub 2018 Jul 20 doi: 10.1016/j.biopha.2018.07.080. PMID: 30119199
Hulton SA
Int J Surg 2016 Dec;36(Pt D):649-654. Epub 2016 Nov 1 doi: 10.1016/j.ijsu.2016.10.039. PMID: 27815184
Ruml LA, Pearle MS, Pak CY
Urol Clin North Am 1997 Feb;24(1):117-33. doi: 10.1016/s0094-0143(05)70358-x. PMID: 9048856

Therapy

Wigner P, Bijak M, Saluk-Bijak J
Cells 2022 Jan 14;11(2) doi: 10.3390/cells11020284. PMID: 35053400Free PMC Article
Dill H, Martin-Higueras C, Hoppe B
Urolithiasis 2022 Apr;50(2):141-148. Epub 2021 Nov 25 doi: 10.1007/s00240-021-01290-2. PMID: 34821949Free PMC Article
Lobine D, Ahmed S, Aschner M, Khan H, Mirzaei H, Mahomoodally MF
Drug Dev Res 2020 Sep;81(6):671-684. Epub 2020 Apr 20 doi: 10.1002/ddr.21670. PMID: 32314397
Ahmed S, Hasan MM, Khan H, Mahmood ZA, Patel S
Biomed Pharmacother 2018 Oct;106:1292-1299. Epub 2018 Jul 20 doi: 10.1016/j.biopha.2018.07.080. PMID: 30119199
Moe OW, Xu LHR
J Nephrol 2018 Apr;31(2):189-196. Epub 2018 Jan 24 doi: 10.1007/s40620-018-0469-3. PMID: 29368300

Prognosis

Aihemaitijiang B, Ruotian L, Qi Y, Mahemuti M
Int Urol Nephrol 2023 Jul;55(7):1671-1676. Epub 2023 May 17 doi: 10.1007/s11255-023-03615-z. PMID: 37198517
More-Krong P, Tubsaeng P, Madared N, Srisa-Art M, Insin N, Leeladee P, Boonla C
Sci Rep 2020 May 20;10(1):8334. doi: 10.1038/s41598-020-65244-1. PMID: 32433482Free PMC Article
Çakıroğlu B, Eyyupoğlu E, Hazar AI, Uyanik BS, Nuhoğlu B
Arch Ital Urol Androl 2016 Jul 4;88(2):101-5. doi: 10.4081/aiua.2016.2.101. PMID: 27377084
Monico CG, Milliner DS
Nat Rev Nephrol 2011 Dec 20;8(3):151-62. doi: 10.1038/nrneph.2011.211. PMID: 22183508Free PMC Article
Tiselius HG
World J Urol 1997;15(3):176-85. doi: 10.1007/BF02201855. PMID: 9228725

Clinical prediction guides

Aihemaitijiang B, Ruotian L, Qi Y, Mahemuti M
Int Urol Nephrol 2023 Jul;55(7):1671-1676. Epub 2023 May 17 doi: 10.1007/s11255-023-03615-z. PMID: 37198517
Coffey EL, Gomez AM, Burton EN, Granick JL, Lulich JP, Furrow E
J Vet Intern Med 2022 Jul;36(4):1341-1352. Epub 2022 Jul 7 doi: 10.1111/jvim.16482. PMID: 35796316Free PMC Article
More-Krong P, Tubsaeng P, Madared N, Srisa-Art M, Insin N, Leeladee P, Boonla C
Sci Rep 2020 May 20;10(1):8334. doi: 10.1038/s41598-020-65244-1. PMID: 32433482Free PMC Article
Moe OW, Xu LHR
J Nephrol 2018 Apr;31(2):189-196. Epub 2018 Jan 24 doi: 10.1007/s40620-018-0469-3. PMID: 29368300
Tiselius HG
World J Urol 1997;15(3):176-85. doi: 10.1007/BF02201855. PMID: 9228725

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