Genetic Predisposition to Formation of Calcium Oxalate Renal Calculi

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Abstract
Significantly higher frequencies of renal calculi were found among the 625 parents and sibs of 106 subjects prone to calcium oxalate stone formation as compared with 576 corresponding relatives of spouses of propositi. Complete reporting was accomplished in 85.3 per cent of the relatives. Analyses ruled out monogenic inheritance but were compatible with the hypothesis that the tendency to form calcium oxalate renal stones is regulated by a polygenic system, with a lesser risk for females. One implication of this finding is that no single biochemical variable will be found that will account for the diathesis. Lifetime risk for brothers of propositi approached 50 per cent, suggesting the value of prophylaxis. Population estimates of the frequency of oxalate stones among males ranged from 2.3 to 4.2 per cent on the basis of frequencies among male relatives. The presence of single or recurrent stones among relatives was independent of whether propositi had single or recurrent stones.

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