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Urolithiasis

, Volume 47, Issue 1, pp 79–89 | Cite as

Recent advances in the identification and management of inherited hyperoxalurias

  • David J. SasEmail author
  • Peter C. Harris
  • Dawn S. Milliner
Invited Review

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

Primary hyperoxaluria Nephrolithiasis Kidney stones Genetic 

Notes

Acknowledgements

This work is funded by the Rare Kidney Stone Consortium (U54DK83908), which is part of Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS). This consortium is funded through collaboration between NCATS, and the National Institute of Diabetes and Digestive and Kidney Diseases.

Compliance with ethical standards

Conflict of interest

Dr. Sas has not conflicts of interest. Dr. Harris has a research grant from Otsuka Pharmaceuticals and consulting agreements (funds to his research program) with Mitobridge, Vertex, and Regulus. Dr. Milliner has conducted research funded in part or in whole by OxThera, Allena, and Alnylam pharmaceutical companies. She has consulting contracts (funds to her research program) with OxThera, Alnylam, and Dicerna for general consulting and and/or as chair of a Data Safety Monitoring Board for a clinical trial.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • David J. Sas
    • 1
    Email author
  • Peter C. Harris
    • 1
  • Dawn S. Milliner
    • 1
  1. 1.Mayo ClinicRochesterUSA

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