Table of Contents Author Guidelines Submit a Manuscript
International Journal of Nephrology
Volume 2011, Article ID 864580, 11 pages
http://dx.doi.org/10.4061/2011/864580
Review Article

Primary Hyperoxaluria

1Service de Pédiatrie, Centre de référence Maladies Rénales Rares du Sud-Ouest, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France
2Service de Pédiatrie, Centre de référence des Maladies Rénales Rares, Hospices Civils de Lyon et Université de Lyon, 69677 Bron, France
3Department of Cell and Developmental Biology, University College London, WC1E LBT London, UK
4Maladies Héréditaires du Métabolisme, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, 69677 Bron, France
5Institut de Biologie et de Chimie des Protéines, FRE DyHTIT, CNRS, Université de Lyon, 69007 Lyon, France

Received 14 February 2011; Accepted 22 March 2011

Academic Editor: Michel Fischbach

Copyright © 2011 Jérôme Harambat et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Primary hyperoxalurias (PH) are inborn errors in the metabolism of glyoxylate and oxalate. PH type 1, the most common form, is an autosomal recessive disorder caused by a deficiency of the liver-specific enzyme alanine, glyoxylate aminotransferase (AGT) resulting in overproduction and excessive urinary excretion of oxalate. Recurrent urolithiasis and nephrocalcinosis are the hallmarks of the disease. As glomerular filtration rate decreases due to progressive renal damage, oxalate accumulates leading to systemic oxalosis. Diagnosis is often delayed and is based on clinical and sonographic findings, urinary oxalate assessment, DNA analysis, and, if necessary, direct AGT activity measurement in liver biopsy tissue. Early initiation of conservative treatment, including high fluid intake, inhibitors of calcium oxalate crystallization, and pyridoxine in responsive cases, can help to maintain renal function in compliant subjects. In end-stage renal disease patients, the best outcomes have been achieved with combined liver-kidney transplantation which corrects the enzyme defect.