Primary Hyperoxaluria Type 1

Indications for Screening and Guidance for Diagnosis and Treatment

Pierre Cochat; Sally-Anne Hulton; Cécile Acquaviva; Christopher J. Danpure; Michel Daudon; Mario De Marchi; Sonia Fargue; Jaap Groothoff; Jérôme Harambat; Bernd Hoppe; Neville V. Jamieson; Markus J. Kemper; Giorgia Mandrile; Martino Marangella; Stefano Picca; Gill Rumsby; Eduardo Salido; Michael Straub; Christiaan S. van Woerden


Nephrol Dial Transplant. 2012;27(5):1729-1736. 

In This Article


Hyperoxaluria should be considered in any patient with a history of urolithiasis and/or nephrocalcinosis. Such patients should be referred to reference centres with access to appropriate biochemical and genotyping facilities. An early and accurate diagnosis leading to aggressive supportive treatment is a major factor in short- and long-term outcomes. No method of dialysis is ideal; however, intensive extended daily dialysis should be recommended. Early pre-emptive transplantation should be considered in those with impaired renal function at an early stage (CKD Stage 3b); most experience in PH1 is available with combined liver–kidney transplantation.

New insights into potential therapies, including restoration of defective enzyme activity through chemical chaperones, hepatocyte cell transplantation or recombinant gene therapy for enzyme replacement, provide some hope for a curative approach of PH1 in the future.


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