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Primary Hyperoxaluria in Children

Pediatric Nephrology

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Abstract

Hyperoxaluria may be either a secondary or a primary disease. Three distinct autosomal recessive inherited enzyme defects of glyoxylate metabolism have been related to type 1, type 2, and type 3 primary hyperoxalurias (PH), i.e., alanine: glyoxylate aminotransferase (AGT), glyoxylate reductase/hydroxypyruvate reductase (GRHPR), and 4-hydroxy-2-oxoglutarate aldolase (HOGA), respectively; in addition, a few other patients with PH have been reported without identification of PH1, PH2, nor PH3 so that other rare metabolic defects are likely to exist. Among all PH patients, type 1 accounts for 73–80 %, type 2 for 5–10 %, type 3 for 8–10 %, and others for 5–11 % [1]. The global survival rate is better for PH3 than PH2 and better for PH2 than PH1.

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Authors and Affiliations

  1. Centre de référence des maladies rénales rares Néphrogones, Hôpital Femme Mère Enfant, Hospices Civils de Lyon & Université de Lyon, 59 boulevard Pinel, 69677, Lyon, France

    Pierre Cochat & Cecile Acquaviva-Bourdain

  2. IBCP-UMR 5305 CNRS, Université Claude-Bernard Lyon 1, Lyon, France

    Pierre Cochat

  3. Department of Surgery, Addenbrookes Hospital, Cambridge University Teaching Hospitals, Hills Road, CB2 0QQ, Cambridge, United Kingdom

    Neville Jamieson

  4. Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Lyon, France

    Cecile Acquaviva-Bourdain

Authors
  1. Pierre Cochat
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  2. Neville Jamieson
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  3. Cecile Acquaviva-Bourdain
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Corresponding author

Correspondence to Pierre Cochat .

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Editors and Affiliations

  1. Children's Hospital of Wisconsin Children's Research Institute, Milwaukee, Wisconsin, USA

    Ellis D. Avner

  2. Harvard Medical School Children's Hospital Boston, Boston, Massachusetts, USA

    William E. Harmon

  3. Hôpital Necker Enfants Malades Dept. Néphrologie Pédiatrique, Paris, France

    Patrick Niaudet

  4. Wakayama Medical University Dept. Pediatrics, Wakayama City, Japan

    Norishige Yoshikawa

  5. Department of Nephrology and Urology Division of Nephrology, Children's Hospital Bambino Gesù, IRCCS, Rome, Italy

    Francesco Emma

  6. Division of Nephrology and Hypertension The Heart Institute, University of Cincinnati Cincinnati Children’s Hospital Medical C, Cincinnati, Ohio, USA

    Stuart Goldstein

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Cochat, P., Jamieson, N., Acquaviva-Bourdain, C. (2015). Primary Hyperoxaluria in Children. In: Avner, E., Harmon, W., Niaudet, P., Yoshikawa, N., Emma, F., Goldstein, S. (eds) Pediatric Nephrology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-27843-3_39-1

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  • DOI: https://doi.org/10.1007/978-3-642-27843-3_39-1

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  • Online ISBN: 978-3-642-27843-3

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Chapter history

  1. Latest

    Hyperoxaluria
    Published:
    27 October 2021

    DOI: https://doi.org/10.1007/978-3-642-27843-3_39-2

  2. Original

    Primary Hyperoxaluria in Children
    Published:
    18 April 2015

    DOI: https://doi.org/10.1007/978-3-642-27843-3_39-1

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