Primary Hyperoxaluria

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Xu, R. Primary Hyperoxaluria. Encyclopedia. Available online: https://encyclopedia.pub/entry/5449 (accessed on 21 September 2026).

Xu R. Primary Hyperoxaluria. Encyclopedia. Available at: https://encyclopedia.pub/entry/5449. Accessed September 21, 2026.

Xu, Rita. "Primary Hyperoxaluria" Encyclopedia, https://encyclopedia.pub/entry/5449 (accessed September 21, 2026).

Xu, R. (2020, December 24). Primary Hyperoxaluria. In Encyclopedia. https://encyclopedia.pub/entry/5449

Xu, Rita. "Primary Hyperoxaluria." Encyclopedia. Web. 24 December, 2020.

Primary Hyperoxaluria

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/primary-hyperoxaluria

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.

genetic conditions

References

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. Renalfunction can be impaired in children with primary hyperoxaluria type 3. PediatrNephrol. 2015 Oct;30(10):1807-13. doi: 10.1007/s00467-015-3090-x.
Cochat P, Rumsby G. Primary hyperoxaluria. N Engl J Med. 2013 Aug15;369(7):649-58. doi: 10.1056/NEJMra1301564. Review. Erratum in: N Engl J Med.2013 Nov 28;369(22):2168.
Hopp K, Cogal AG, Bergstralh EJ, Seide BM, Olson JB, Meek AM, Lieske JC,Milliner DS, Harris PC; Rare Kidney Stone Consortium. Phenotype-GenotypeCorrelations and Estimated Carrier Frequencies of Primary Hyperoxaluria. J Am SocNephrol. 2015 Oct;26(10):2559-70. doi: 10.1681/ASN.2014070698.
Hoppe B. An update on primary hyperoxaluria. Nat Rev Nephrol. 2012 Jun12;8(8):467-75. doi: 10.1038/nrneph.2012.113. Review.
Milliner DS, Harris PC, Cogal AG, Lieske JC. Primary Hyperoxaluria Type 1.2002 Jun 19 [updated 2017 Nov 30]. In: Adam MP, Ardinger HH, Pagon RA, WallaceSE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle(WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1283/
Milliner DS, Harris PC, Lieske JC. Primary Hyperoxaluria Type 3. 2015 Sep 24. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK316514/
Rumsby G, Hulton SA. Primary Hyperoxaluria Type 2. 2008 Dec 2 [updated 2017Dec 21]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK2692/

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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