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Urolithiasis

, Volume 47, Issue 1, pp 67–78 | Cite as

Molecular basis of primary hyperoxaluria: clues to innovative treatments

  • Mirco Dindo
  • Carolina Conter
  • Elisa Oppici
  • Veronica Ceccarelli
  • Lorella Marinucci
  • Barbara CelliniEmail author
Invited Review
  • 164 Downloads

Abstract

Primary hyperoxalurias (PHs) are rare inherited disorders of liver glyoxylate metabolism, characterized by the abnormal production of endogenous oxalate, a metabolic end-product that is eliminated by urine. The main symptoms are related to the precipitation of calcium oxalate crystals in the urinary tract with progressive renal damage and, in the most severe form named Primary Hyperoxaluria Type I (PH1), to systemic oxalosis. The therapies currently available for PH are either poorly effective, because they address the symptoms and not the causes of the disease, or highly invasive. In the last years, advances in our understanding of the molecular bases of PH have paved the way for the development of new therapeutic strategies. They include (i) substrate-reduction therapies based on small-molecule inhibitors or the RNA interference technology, (ii) gene therapy, (iii) enzyme administration approaches, (iv) colonization with oxalate-degrading intestinal microorganisms, and, in PH1, (v) design of pharmacological chaperones. This paper reviews the basic principles of these new therapeutic strategies and what is currently known about their application to PH.

Keywords

Rare disorder Primary hyperoxaluria Drug discovery Molecular basis of disease Substrate-reduction therapies Pharmacological chaperones 

Notes

Acknowledgements

This study was supported by a grant from the Oxalosis and Hyperoxaluria Foundation (OHF2016 to BC) and by the Italian Minister of Instruction University and Research, SIR projects (RBSI148BK3 to BC).

Compliance with ethical standards

Conflict of interest

The authors declare that they do not have any conflicts of interest to declare.

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Copyright information

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

Authors and Affiliations

  1. 1.Department of Experimental MedicineUniversity of PerugiaPerugiaItaly
  2. 2.Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological ChemistryUniversity of VeronaVeronaItaly

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