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Primary Hyperoxaluria

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Pediatric Kidney Disease

Abstract

The primary hyperoxalurias (PH) types 1, 2 and 3 are autosomal recessive inherited defects of the glyoxylate metabolism leading to endogenous oxalate overproduction and markedly elevated urinary oxalate excretion. The clinical hallmarks of PH are recurrent urolithiasis and/or progressive nephrocalcinosis. Especially in patient suffering from PH 1 chronic inflammatory processes in the kidney often lead to early end stage renal disease (ESRD), and subsequently systemic deposition of calcium oxalate crystals, which turns PH into a lethal multisystemic disease. Diagnosis is too often delayed until ESRD or even after recurrence of oxalosis in missed cases proceeding to isolated kidney transplantation. Conservative treatment options, management on dialysis and transplantation strategy are discussed in detail.

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Authors and Affiliations

  1. Institute of Human Genetics, University of Cologne Medical Center, Kerpenerstr. 34, Cologne, 50931, Germany

    Bodo B. Beck

  2. Department of Pediatrics and Adolescent Medicine, University Hospital Bonn, Adenauerallee 119, Bonn, 53127, Germany

    Bernd Hoppe

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  1. Bodo B. Beck
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  2. Bernd Hoppe
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Correspondence to Bodo B. Beck or Bernd Hoppe .

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Editors and Affiliations

  1. Division of Nephrology, The Hospital for Sick Children, Toronto, Ontario, Canada

    Denis F. Geary

  2. Division of Pediatric Nephrology, University of Heidelberg, Heidelberg, Germany

    Franz Schaefer

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Beck, B.B., Hoppe, B. (2016). Primary Hyperoxaluria. In: Geary, D., Schaefer, F. (eds) Pediatric Kidney Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-52972-0_39

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