FAMILIAL NEPHROPATHY ASSOCIATED TO HYPERU RICEMIA

We describe a 16 years old man familial nephropathy and high serum uri c acid. Laboratory findings include a mild to moderate renal failure, severe hyperuricemia and low renal excretion of uric acid. No intersti tial damage from uric and deposition was observed in a renal biopsy. T he enzymes phosphoribosyl-pyrophosphate synthetase and hypoxaxnthine-g uanine-pyrophosphate transferase are normal. Several relatives have ch ronic renal failure and hyperuricemia. The mot her developed gouty art hritis at 32 years old. This nephropathy is not the result onf an inte rstitial deposition oi uric acid crystals and the hyperuricemia is not due to enzyme deficiency. This is not a more common familial nephropa thy such as Allport syndrome or outsomal recessive polycystic disease. Finally, we conclude that this is a familial nephropathy of the type described by Duncan and Dixon in 1960; it is caused, in the opinion of several authors, Dy a decrease in renal uric acid excretors.