Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hyperoxaluria

Hereditary oxalosis is an autosomal recessive disease characterized by excessive renal excretion and sedimentation of oxalate due to overproduction. It results in as urolithiasis and nephrocalcinosis. Depending on the affected gene, three types can be distinguished.

Epidemiology

Hyperoxaluria is an extremely rare disease. The prevalence has been assumed of 1 in 1-15,000,000.[Error: Macro 'ref' doesn't exist]

According to the German data, 2%-2.7% of children with hyperoxaluria develop ESRS, who account for 1% of patients new on dialysiseach year. In a survey performed among American nephrologists from 1997 to 2003, only 102 patients were reported. Most of these patients were Caucasian (84%). Hyperoxaluria type 1 is the most common condition seen in 79 patients compared to only 9 patients with hyperoxaluria type 2; 14 patients remained unclassified.[Error: Macro 'ref' doesn't exist]

Differentials

Aquired forms of hyperoxaluria can be found if increased amounts of oxalate is absorbed, for instance in short bowel syndrome.

Pathogenesis

The key pathogenetic feature is the enhanced conversion of glyoxalate into poorly soluble oxalate. To drive glyoxalate into this unfortunate metabolic pathway, two enzyme deficiencies are known, which account for type 1 and 2 (alanine-glyoxylate aminotransferase and glyoxalate reductase/D-glycerate dehydrogenase respectively). A third form of hyperoxaluria is caused by deficiency of the mitochondrial enzyme 4-hydroxy-2-oxoglutarate aldolase 1. Eine dritte Form wird durch eine Funktionsstörung des mitochondrialen Enzyms 4-hydroxy-2-oxoglutarate Aldolase 1 ausgelöst.

Systematic

Hereditary metabolic kidney disease
Fabry disease
Hereditary amyloidosis
Hyperoxaluria
Hyperoxaluria type 1
AGXT
Hyperoxaluria type 2
GRHPR
Hyperoxaluria type 3
HOGA1
Lysinuric protein intolerance

References:

1.

Purdue PE et al. (1990) Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.

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2.

Latta K et al. (1990) Primary hyperoxaluria type I.

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3.

Levy M et al. (2000) Estimating prevalence in single-gene kidney diseases progressing to renal failure.

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4.

Hoppe B et al. (2003) A United States survey on diagnosis, treatment, and outcome of primary hyperoxaluria.

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5.

Hoppe B et al. (2004) Diagnostic and therapeutic strategies in hyperoxaluria: a plea for early intervention.

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6.

Leumann E et al. (2005) Primary hyperoxaluria type 1: is genotyping clinically helpful?

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7.

Hoppe B et al. () Primary hyperoxaluria--the German experience.

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8.

Laube N et al. (2005) Problems in the investigation of urine from patients suffering from primary hyperoxaluria type 1.

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9.

Hoppe B et al. (2006) Oxalobacter formigenes: a potential tool for the treatment of primary hyperoxaluria type 1.

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10.

Lorenzo V et al. (2006) Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation: Single-center experience.

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11.

Beck BB et al. (2006) Is there a genotype-phenotype correlation in primary hyperoxaluria type 1?

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12.

Wikipedia article

Wikipedia EN (Hyperoxaluria) [^]
Update: May 10, 2019