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Review
, 47 (1), 79-89

Recent Advances in the Identification and Management of Inherited Hyperoxalurias

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Review

Recent Advances in the Identification and Management of Inherited Hyperoxalurias

David J Sas et al. Urolithiasis.

Erratum in

Abstract

Primary hyperoxaluria (PH) is caused by genetic mutations resulting in oxalate overproduction leading to nephrolithiasis, nephrocalcinosis, extrarenal manifestations, chronic kidney disease, and end-stage renal disease. Advances in genetic testing techniques have improved our ability to efficiently and effectively obtain a definitive diagnosis of PH as well as easily screen at-risk family members. Similarly, advances in technologies related to intervening at the genetic and molecular level promise to change the way we treat patients with PH. In this review, we provide an update regarding the identification of underlying molecular and biochemical causes of inherited hyperoxalurias, clinical manifestations, and treatment strategies.

Keywords: Genetic; Kidney stones; Nephrolithiasis; Primary hyperoxaluria.

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References

    1. ACS Chem Biol. 2015 Oct 16;10(10):2227-36 - PubMed

References

    1. Nephrol Dial Transplant. 2012 May;27(5):1729-36 - PubMed

References

    1. Biochim Biophys Acta. 2016 Feb;1862(2):233-9 - PubMed

References

    1. Pediatr Nephrol. 2001 Feb;16(2):140-4 - PubMed

References

    1. Urolithiasis. 2018 Aug;46(4):313-323 - PubMed

References

    1. Pediatr Nephrol. 2006 Aug;21(8):1075-81 - PubMed

References

    1. J Am Soc Nephrol. 2017 Feb;28(2):494-503 - PubMed

References

    1. Am J Hum Genet. 2010 Sep 10;87(3):392-9 - PubMed

References

    1. Am J Nephrol. 2005 May-Jun;25(3):269-75 - PubMed

References

    1. Hum Mol Genet. 1999 Oct;8(11):2063-9 - PubMed

References

    1. Clin J Am Soc Nephrol. 2011 Sep;6(9):2289-95 - PubMed

References

    1. N Engl J Med. 1968 Feb 1;278(5):233-8 - PubMed

References

    1. Clin Biochem. 2014 Feb;47(3):158-65 - PubMed

References

    1. Mol Ther. 2016 Apr;24(4):719-25 - PubMed

References

    1. J Am Soc Nephrol. 2015 Mar;26(3):543-51 - PubMed

References

    1. Clin J Am Soc Nephrol. 2014 Mar;9(3):468-77 - PubMed

References

    1. Nephrol Dial Transplant. 2011 Nov;26(11):3609-15 - PubMed

References

    1. Cancer Lett. 2012 Aug 1;321(1):45-54 - PubMed

References

    1. Kidney Int. 2006 Oct;70(7):1305-11 - PubMed

References

    1. Retina. 2016 Nov;36(11):2227-2235 - PubMed

References

    1. Nephrol Dial Transplant. 1993;8(12):1333-7 - PubMed

References

    1. Am J Physiol Gastrointest Liver Physiol. 2011 Mar;300(3):G461-9 - PubMed

References

    1. Ann Transplant. 2015 Nov 26;20:707-13 - PubMed

References

    1. Kidney Int. 2005 May;67(5):1704-9 - PubMed

References

    1. Hum Mol Genet. 2015 Oct 1;24(19):5500-11 - PubMed

References

    1. Urology. 2000 Sep 1;56(3):508 - PubMed

References

    1. J Am Soc Nephrol. 2017 Mar;28(3):748-759 - PubMed

References

    1. Nephrol Dial Transplant. 2003 Feb;18(2):273-9 - PubMed

References

    1. Proc Natl Acad Sci U S A. 2014 Oct 7;111(40):14406-11 - PubMed

References

    1. Pediatr Nephrol. 2013 Jul;28(7):1085-9 - PubMed

References

    1. Pediatr Nephrol. 1996 Aug;10(4):479-82 - PubMed

References

    1. Muscle Nerve. 2015 Mar;51(3):449-54 - PubMed

References

    1. Gene Ther. 2016 Feb;23(2):129-34 - PubMed

References

    1. Pediatr Nephrol. 2017 May;32(5):781-790 - PubMed

References

    1. Int J Dermatol. 2015 Nov;54(11):e478-9 - PubMed

References

    1. Kidney Int. 2015 Mar;87(3):623-31 - PubMed

References

    1. Annu Rev Pharmacol Toxicol. 2016;56:103-22 - PubMed

References

    1. Transplant Proc. 2004 Jul-Aug;36(6):1788-91 - PubMed

References

    1. Mol Ther. 2016 Apr;24(4):666-7 - PubMed

References

    1. Ann Clin Biochem. 2016 Jul;53(Pt 4):485-94 - PubMed

References

    1. Lancet. 1987 Aug 29;2(8557):474-5 - PubMed

References

    1. J Med Genet. 2014 Aug;51(8):526-9 - PubMed

References

    1. Circ J. 2010 Nov;74(11):2403-9 - PubMed

References

    1. Br Med J. 1975 May 10;2(5966):312-3 - PubMed

References

    1. Lancet. 1957 Aug 17;273(6990):320-2 - PubMed

References

    1. J Cell Biol. 1990 Dec;111(6 Pt 1):2341-51 - PubMed

References

    1. Biochim Biophys Acta. 2013 Oct;1832(10):1776-83 - PubMed

References

    1. Nephrol Dial Transplant. 1995;10 Suppl 8:3-7 - PubMed

References

    1. Kidney Int. 2018 Jan;93(1):204-213 - PubMed

References

    1. Pediatr Nephrol. 2016 Jan;31(1):1-6 - PubMed

References

    1. Am J Transplant. 2014 Jun;14(6):1433-8 - PubMed

References

    1. Nanomedicine. 2017 Apr;13(3):897-907 - PubMed

References

    1. Eur J Paediatr Neurol. 2017 Sep;21(5):792-794 - PubMed

References

    1. Kidney Int. 1998 Sep;54(3):921-5 - PubMed

References

    1. Urolithiasis. 2017 Feb;45(1):89-108 - PubMed

References

    1. N Engl J Med. 1994 Dec 8;331(23):1553-8 - PubMed

References

    1. J Am Soc Nephrol. 1999 Nov;10(11):2352-8 - PubMed

References

    1. Am J Physiol Renal Physiol. 2013 Dec 1;305(11):F1574-84 - PubMed

References

    1. Urology. 2015 Mar;85(3):522-6 - PubMed

References

    1. J Nephrol. 1998 Mar-Apr;11 Suppl 1:51-5 - PubMed

References

    1. Mol Ther. 2016 Apr;24(4):770-8 - PubMed

References

    1. Biochim Biophys Acta. 2005 Dec 1;1753(2):209-16 - PubMed

References

    1. Nephrol Dial Transplant. 2012 Aug;27(8):3191-5 - PubMed

References

    1. Urol Int. 1983;38(3):179-81 - PubMed

References

    1. Clin Chem. 2005 Dec;51(12):2423-5 - PubMed

References

    1. Breast Cancer Res Treat. 2012 Feb;131(3):791-800 - PubMed

References

    1. Pediatr Nephrol. 2013 Oct;28(10):1923-42 - PubMed

References

    1. Kidney Int. 2010 Mar;77(5):443-9 - PubMed

References

    1. Am J Transplant. 2018 Jan;18(1):253-257 - PubMed

References

    1. J Am Soc Nephrol. 2015 Oct;26(10):2559-70 - PubMed

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