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01-02-2019 | Invited Review

Recent advances in the identification and management of inherited hyperoxalurias

Authors: David J. Sas, Peter C. Harris, Dawn S. Milliner

Published in: Urolithiasis | Issue 1/2019

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.

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Title: Recent advances in the identification and management of inherited hyperoxalurias
Authors: David J. Sas
Peter C. Harris
Dawn S. Milliner
Publication date: 01-02-2019
Publisher: Springer Berlin Heidelberg
Published in: Urolithiasis / Issue 1/2019
Print ISSN: 2194-7228
Electronic ISSN: 2194-7236
DOI: https://doi.org/10.1007/s00240-018-1093-3

At a glance: The STEP trials

Springer Medicine

Recent advances in the identification and management of inherited hyperoxalurias

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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