A new hereditary syndrome is described, comprising isolated renal tubular hypouricemia, hyperuricosuria, and variably, absorptive hypercalciuria and urolithiasis. Eight families with hypouricemia-hyperuricosuria, five from our laboratory, have been reported so far. The propositi of four of these families had hypercalciuria in addition. Urolithiasis occurred in the propositi of four families, although not invariably associated with hypercalciuria. The pattern of inheritance of this type of renal hypouricemia was autosomal, probably recessive. The effects of probenecid and of pyrazinamide on renal urate clearance suggest that the renal abnormality in this syndrome is of two types: defective renal tubular, presecretory urate reabsorption or defective combined presecretory and postsecretory urate reabsorption.
|State||Published - 1980|