Primary Hyperoxaluria and Related Conditions
1979
Primary hyperoxaluria is the name at present given to a genetically determined disorder of oxalate metabolism, the clinical manifestations of which are recurrent calcium oxalate nephrolithiasis and later in the disease radiologically demonstrable nephro-calcinosis, with a continuously high output of oxalic acid and usually of glycollic acid and glyoxylic acid in the urine and progressive renal damage leading to death in uraemia. At autopsy, though not demonstrable clinically, extrarenal crystalline deposits of calcium oxalate are found in many organs as well as in the kidney, the syndrome then being called ‘oxalosis’.
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