[Primary hyperoxaluria].

[primary hyperoxaluria type 1]

Primary hyperoxalurias are rare recessive inherited inborn errors of glyoxylate metabolism . They are responsible for progressive renal involvement , which further lead to systemic oxalate deposition , which can even occur in infants . Primary hyperoxaluria type 1 is the most common form in Europe and is due to alanine-glyoxylate aminostransferase deficiency , a hepatic peroxisomal pyridoxin-dependent enzyme . Therefore primary hyperoxaluria type 1 is responsible for hyperoxaluria leading to aggressive stone formation and nephrocalcinosis . As glomerular filtration rate decreases , systemic oxalate storage occurs throughout all the body , and mainly in the skeleton . The diagnosis is first based on urine oxalate measurement , then on genotyping , which may also allow prenatal diagnosis to be proposed . Conservative measures -Â including hydration , crystallization inhibitors and pyridoxine Â - are safe and may allow long lasting renal survival , provided it is given as soon as the diagnosis has been even suspected . No dialysis procedure can remove enough oxalate to compensate oxalate overproduction from the sick liver , therefore a combined liver and kidney transplantation should be planned before advanced renal disease has occurred , in order to limit /avoid systemic oxalate deposition . In the future , primary hyperoxaluria type 1 may benefit from hepatocyte transplantation , chaperone molecules , etc .

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Diseases presenting "provided it is given as soon as the diagnosis has been even suspected" symptom

primary hyperoxaluria type 1

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