Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2019 Feb;47(1):79-89.
doi: 10.1007/s00240-018-1093-3. Epub 2018 Dec 10.

Recent Advances in the Identification and Management of Inherited Hyperoxalurias

Affiliations
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.

Similar articles

See all similar articles

Cited by 3 articles

References

    1. ACS Chem Biol. 2015 Oct 16;10(10):2227-36 - PubMed
    1. Nephrol Dial Transplant. 2012 May;27(5):1729-36 - PubMed
    1. Biochim Biophys Acta. 2016 Feb;1862(2):233-9 - PubMed
    1. Pediatr Nephrol. 2001 Feb;16(2):140-4 - PubMed
    1. Urolithiasis. 2018 Aug;46(4):313-323 - PubMed

MeSH terms

LinkOut - more resources

Feedback