Primary Hyperoxaluria in Children

  • Pierre Cochat
  • Neville Jamieson
  • Cecile Acquaviva-Bourdain
Living reference work entry

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.

Keywords

Calcium Oxalate Lanthanum Carbonate Primary Hyperoxaluria Urinary Oxalate Excretion Preimplantation Diagnosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • Pierre Cochat
    • 1
    • 2
  • Neville Jamieson
    • 3
  • Cecile Acquaviva-Bourdain
    • 1
    • 4
  1. 1.Centre de référence des maladies rénales rares Néphrogones, Hôpital Femme Mère EnfantHospices Civils de Lyon & Université de LyonLyonFrance
  2. 2.IBCP-UMR 5305 CNRSUniversité Claude-Bernard Lyon 1LyonFrance
  3. 3.Department of SurgeryAddenbrookes Hospital, Cambridge University Teaching HospitalsCambridgeUnited Kingdom
  4. 4.Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et Pathologie EstHospices Civils de LyonLyonFrance

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