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Recent advances in the identification and management of inherited hyperoxalurias

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A Correction to this article was published on 13 October 2019

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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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Change history

  • 13 October 2019

    The original version of this article unfortunately contained a mistake. On page 84, the dose for oral potassium citrate is incorrectly written as “0.1 mg/kg/day divided BID-QID for children, 30–60 mg per day divided BID-QID for adults”.

  • 13 October 2019

    The original version of this article unfortunately contained a mistake. On page 84, the dose for oral potassium citrate is incorrectly written as ���0.1��mg/kg/day divided BID-QID for children, 30���60��mg per day divided BID-QID for adults���.

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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.

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    David J. Sas, Peter C. Harris & Dawn S. Milliner

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Correspondence to David J. Sas.

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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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Sas, D.J., Harris, P.C. & Milliner, D.S. Recent advances in the identification and management of inherited hyperoxalurias. Urolithiasis 47, 79–89 (2019). https://doi.org/10.1007/s00240-018-1093-3

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  • DOI: https://doi.org/10.1007/s00240-018-1093-3

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