Primary hyperoxaluria is a condition that results in the over production of oxalate which combines with calcium to generate calcium oxalate, the main component of kidney stones.
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Primary hyperoxaluria, on the other hand, refers to a specific type of hyperoxaluria that is due to a metabolic defect resulting from a heritable genetic defect.
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Primary hyperoxaluria, on the other hand, refers to a specific type of hyperoxaluria that is due to a metabolic defect resulting from a heritable genetic defect.
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As noted above ( section on calcium oxalate stones ), people with inflammatory bowel disease ( Crohn's disease, ulcerative colitis ) tend to have hyperoxaluria and form oxalate stones.
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Perhaps the key difficulty in understanding pathogenesis of primary hyperoxaluria, or more specifically, why AGXT ends up in mitochondria instead of peroxisomes, stems from AGXT's somewhat peculiar evolution.
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Primary Hyperoxaluria type 2 is caused by any one of several mutations to the GRHPR gene and results in the accumulation of calcium oxalate in the kidneys, bones, and many other organs.
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They include primary hyperoxaluria, which causes kidney stones at an early age, as well as some forms of inherited high cholesterol and illnesses like cystic fibrosis that occur when proteins fail to reach their proper positions within a cell.
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Oxalate stones in primary hyperoxaluria tend to be severe, resulting in relatively early kidney damage ( say teenage, early adulthood ), which impairs the excretion of oxalate leading to a further acceleration in accumulation of oxalate in the body.
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Kidney stones can result from an underlying metabolic condition, such as distal renal tubular acidosis, Dent's disease, hyperparathyroidism, primary hyperoxaluria, or medullary sponge kidney . 3 20 % of people who form kidney stones have medullary sponge kidney.
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Because no placebo-controlled studies show therapeutic benefits of high doses of pyridoxine, and the well-documented occurrence of significant toxic effects, little reason exists to exceed the RDI using supplements unless under medical supervision ( e . g . in treatment of primary hyperoxaluria ).
