Urolithiasis in Hereditary Renal Hypouricemia
Urolithiasis due to excessive excretion of insoluble urinary components, is an important clinical manifestation of several inborn errors of metabolism in man. In some of these disorders the excessive excretion is due to a metabolic defect, such as in primary hyperoxaluria, xanthinuria, hypoxanthine-guanine phosphoribosyl-transferase (HGPRT) deficiency and phosphoribosylpyrophosphate (PRPP) synthetase over-activity, whereas in other disorders, it is due to a renal tubular transport abnormality, such as in cystinuria. Hereditary hypouricemia, due to an isolated defect in renal tubular urate reabsorption, is a relatively new disorder, which should be classified with the inborn transport disorders associated with stone formation. Renal hypouricemia of the isolated type was first described by Praetorius and Kirk1, but no evidence was adduced for genetic transmission. The first case of inborn renal hypouricemia2 was reported in 1972. Since 1974 we have encountered 7 Israeli familes with renal hypouricemia in whom the tubular abnormality pertained to urate handling only3−8. Three of the 7 propositi, as well as the propositus reported by Greene et al2, were found to have stones and urolithiasis is a common manifestation of the syndrome. The study of the affected Israeli families contributed to the characterization of the physiological, clinical and genetic aspects of this rare inborn transport error9.
KeywordsUric Acid Calcium Oxalate Uric Acid Stone Primary Hyperoxaluria Clearance Ratio
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