Summary
A Japanese kindred afflicted with familial hypouricemia due to isolated renal tubular defect is reported. The propositus was fortuitously found to have a low serum uric acid concentration (0.9 mg/dl). Based on the effect of pyrazinamide and probenecid on his renal clearance of uric acid, it is suggested that the defect is probably at the presecretory reabsorption site. A survey of the available members of his family (23 in 4 generations) revealed that the condition is transmitted in an autosomal dominant mode. Genetic evidence suggests that tubular presecretory reabsorption of uric acid in man is under the control of at least two autosomal loci.
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Suzuki, T., Kidoguchi, K. & Hayashi, A. Genetic heterogeneity of familial hypouricemia due to isolated renal tubular defect. Jap J Human Genet 26, 243–248 (1981). https://doi.org/10.1007/BF01896136
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DOI: https://doi.org/10.1007/BF01896136
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