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. 2011:2011:864580.
doi: 10.4061/2011/864580. Epub 2011 Jun 16.

Primary hyperoxaluria

Jérôme Harambat  1 , Sonia Fargue, Justine Bacchetta, Cécile Acquaviva, Pierre Cochat
Affiliations

Primary hyperoxaluria

Jérôme Harambat et al. Int J Nephrol. 2011.

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.

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Figures

Figure 1
Figure 1
Reactions involved in oxalate, glyoxylate, and glycolate metabolism in human hepatocytes. Abbreviations: AGT alanine: glyoxylate aminotransferase; GR/HPR glyoxylate reductase/hydroxypyruvate reductase; GO glycolate oxydase; LDH lactate dehydrogenase.
Figure 2
Figure 2
Abdomen X-ray (a) and renal ultrasonography (b) showing urolithiasis and nephrocalcinosis in PH1.
Figure 3
Figure 3
Systemic involvement (“oxalosis”) in PH1. Calcium oxalate deposition in the bones and joints (a), the vessels (b), and the retina (c).
Figure 4
Figure 4
Calcium oxalate stones (a) and urine microscopic examination showing calcium oxalate monohydrate crystals (b) in PH1.
Figure 5
Figure 5
Proposed algorithm for the diagnosis and conservative treatment of primary hyperoxalurias. Abbreviations: PH: primary hyperoxaluria; GFR: glomerular filtration rate; Uox: urinary oxalate; Pox: plasma oxalate; CaOx: calcium oxalate; AGT: alanine:glyoxylate amino transferase; AGXT: AGT gene; GR/HPR: glyoxylate reductase/hydroxypyruvate reductase.
See this image and copyright information in PMC

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