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.
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]
Aquired forms of hyperoxaluria can be found if increased amounts of oxalate is absorbed, for instance in short bowel syndrome.
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.
|Hereditary metabolic kidney disease|
|Hyperoxaluria type 1|
|Hyperoxaluria type 2|
|Hyperoxaluria type 3|
|Lysinuric protein intolerance|
Debiec H et al. (2014) Immunopathogenesis of membranous nephropathy: an update.
Buntin PT et al. (1970) Gastrointestinal neurofibromatosis. A rare cause of chronic anemia.
Waterston R et al. (1992) A survey of expressed genes in Caenorhabditis elegans.
McCombie WR et al. (1992) Caenorhabditis elegans expressed sequence tags identify gene families and potential disease gene homologues.
Zeitlin PL et al. (1992) CFTR protein expression in primary and cultured epithelia.
Shoshani T et al. (1992) Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease.
Casals T et al. (1992) Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin.
Ronchetto P et al. (1992) A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene.
Fonknechten N et al. (1992) CFTR illegitimate transcription in lymphoid cells: quantification and applications to the investigation of pathological transcripts.
Granell R et al. (1992) Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene.
Nunes V et al. (1992) A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.
Graham CA et al. (1992) Identification of a frameshift mutation (557 del T) in exon 4 of the CFTR gene.
Dean M et al. (1992) A 22-bp deletion in the coding region of the cystic fibrosis gene.