Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020500 (hyperoxaluria)
 912 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Urinary excretion of oxalate and phosphate was measured in twelve vitamin-D-treated, phosphate-supplemented patients with X-linked hypophosphataemia (XLH; four children, eight adolescents and adults) to investigate possible causative factors of nephrocalcinosis other than calcium. Oxalate excretion correlated highly with urinary phosphate excretion and with intake of phosphate supplements corrected for body surface area. Young children received the highest relative doses of phosphate (range 2.27-10.8 g/1.73 m2 daily) and their urinary oxalate excretion was very high (0.94-3.38 mmol/1.73 m2 daily). The urinary oxalate excretion of untreated adults with XLH was within normal limits. Six patients had evidence of nephrocalcinosis on ultrasound. The high urinary oxalate excretion in phosphate-supplemented XLH may be seen as a special type of enteric hyperoxaluria, in which the conditions of calcium-oxalate crystal precipitation could be reached even at normal levels of urinary calcium excretion. Urinary excretion of both calcium and oxalate should therefore be monitored during treatment in young XLH patients.
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PMID:Evidence suggesting hyperoxaluria as a cause of nephrocalcinosis in phosphate-treated hypophosphataemic rickets. 197 59

Peroxisomal biogenesis disorders due to PEX gene defects are classified into many subgroups, of which Zellweger spectrum disorders (ZSDs) represent the major subgroup. The ZSDs are clinical and biochemical disorders divided into three phenotypes: neonatal, adolescence, or adult. Clinical presentations vary with severity of the condition. Metabolic abnormalities occur due to functional peroxisomal defects that could be detected in blood and urine. No cure or definitive management exists to date; only supportive and palliative measures are applied to prevent worse sequelae. We experienced a case of oxalate renal stones in a patient with ZSD. This patient had hyperoxaluria and hyperglycolic aciduria with clinically associated clues that correlate with urinary oxalate load. Urinary oxalate and glycolate excretion were assessed. Radiological workup revealed renal involvement with urolithiasis and nephrocalcinosis. Urinalysis and ultrasonography for stones and hyperoxaluria should be used to screen patients with ZSD for early intervention to prevent renal damage.
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PMID:Renal oxalate stones in children with Zellweger spectrum disorders. 2962 51