Pediatric Nephrology

, Volume 21, Issue 8, pp 1075–1081 | Cite as

Primary hyperoxaluria type 1: still challenging!

  • Pierre CochatEmail author
  • Aurélia Liutkus
  • Sonia Fargue
  • Odile Basmaison
  • Bruno Ranchin
  • Marie-Odile Rolland


Primary hyperoxaluria type 1, the most common form of primary hyperoxaluria, is an autosomal recessive disorder caused by a deficiency of the liver-specific enzyme alanine: glyoxylate aminotransferase (AGT). This results in increased synthesis and subsequent urinary excretion of the metabolic end product oxalate and the deposition of insoluble calcium oxalate in the kidney and urinary tract. As glomerular filtration rate (GFR) decreases due to progressive renal involvement, oxalate accumulates and results in systemic oxalosis. Diagnosis is still often delayed. It may be established on the basis of clinical and sonographic findings, urinary oxalate ± glycolate assessment, DNA analysis and, sometimes, direct AGT activity measurement in liver biopsy tissue. The initiation of conservative measures, based on hydration, citrate and/or phosphate, and pyridoxine, in responsive cases at an early stage to minimize oxalate crystal formation will help to maintain renal function in compliant subjects. Patients with established urolithiasis may benefit from extracorporeal shock-wave lithotripsy and/or JJ stent insertion. Correction of the enzyme defect by liver transplantation should be planned, before systemic oxalosis develops, to optimize outcomes and may be either sequential (biochemical benefit) or simultaneous (immunological benefit) liver–kidney transplantation, depending on facilities and access to cadaveric or living donors. Aggressive dialysis therapies are required to avoid progressive oxalate deposition in established end-stage renal disease (ESRD), and minimization of the time on dialysis will improve both the patient’s quality of life and survival.


Primary hyperoxaluria type 1 Alanine:glyoxylate aminotransferase Oxalate Urolithiasis Dialysis Liver transplantation Combined liver–kidney transplantation Oxalosis 


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Copyright information

© IPNA 2006

Authors and Affiliations

  • Pierre Cochat
    • 1
    • 2
    • 4
    Email author
  • Aurélia Liutkus
    • 1
  • Sonia Fargue
    • 1
  • Odile Basmaison
    • 1
  • Bruno Ranchin
    • 1
  • Marie-Odile Rolland
    • 1
    • 3
  1. 1.Centre de Référence des Maladies Rénales HéréditairesHôpital Edouard-HerriotLyonFrance
  2. 2.Laboratoire de Physiopathologie Métabolique et Rénale, Inserm U499Faculté LaennecLyonFrance
  3. 3.Laboratoire de biochimie pédiatriqueHôpital DebrousseLyonFrance
  4. 4.Département de pédiatrieHôpital Edouard-HerriotLyonFrance

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