THE HEREDITY OF GOUT AND ITS RELATIONSHIP TO FAMILIAL HYPERURICEMIA

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Abstract
This study is based on 248 serum uric acid detns. on the 201 members of 44 gouty families as well as 1024 serum uric acids on 961 patients examined routinely at City Hospital, Cleveland, O. An upper limit of normal was recognized clinically at 6.5 mg. per 100 cc. This was proven statistically and a significant sex difference was revealed. A group of 294 normal females showed a mean uric acid level with a standard error of 3.63 [plus or minus] 0.06 mg./100 cc. with a standard deviation of 1.06 [plus or minus] 0.04 mg./ 100 cc, 296 normal males showed 3.95 [plus or minus] 0.06 mg. / 100 cc. with a standard deviation of 1.15 [plus or minus] 0.04 mg./100 cc. The difference of the means with its standard error is 0.32 [plus or minus] 0.08, a significant difference to be expected in random sampling only once in about 15,000 trials. The allowable normal for males of 6.5 mg./lOO cc. is the mean plus 2.22 times the standard deviation. A similar estimate for females is 5.98 mg./lOO cc. Hyperuricemia in the relatives of gouty patients was found in 18% of 11 mothers, 17% of 24 brothers, 21% of 24 sisters and 15% of 33 sons. Not a single daughter among 45 tested had hyperuricemia. There was no correlation between age and hyperuricemia among male relatives of gouty patients, but a significant correlation was found among female relatives. Since no female relative in this series was affected below the age of 50, it seems possible that normal menstrual function inhibits hyperuricemia. On the assumption that gout and hyperuricemia are the expression of the same genotype both in the same family and in different families, this series was developed in an attempt to detect the genetic mechanism involved. The genetic peculiarities of hyperuricemia resemble an autosomal recessive in some families, whereas in others it resembles an autosomal dominant. These peculiarities are, however, quite satisfactorily explained if the gene involved is an autosamal dominant which lacks penetrance in both sexes, but has a much lower penetrance in the female than in the male. A tentative estimate of the penetrance is about 84% in the heterozygous male, about 12% or less in the female. This conclusion brings the data of the pedigrees in good agreement with a tentative estimate of the gene frequencies in the general population.

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