Abstract
Familial juvenile hyperuricaemic nephropathy (FJHN; McKusick 16200) is a disorder characterized by progressive renal disease and gout, affecting young people of either sex equally. Gout and hypertension are inconsistent features. There are two biochemical markers of this disorder. The first is hyperuricaemia disproportionate to the degree of renal dysfunction; the second is a grossly reduced clearance of uric acid relative to Creatinine, disproportionate to age, sex and degree of renal failure1. This condition was first noted in 1960 by Duncan and Dixon2. So far more than 43 kindreds have been described in the literature1. The mode of inheritance is autosomal dominant. The genetic defect remains undefined.
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References
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Sebesta, I., Krijt, J., Pavelka, K., Maly, J., Simmonds, H.A., McBride, M.B. (1995). Familial Juvenile Hyperuricaemic Nephropathy in Adolescents. In: Sahota, A., Taylor, M.W. (eds) Purine and Pyrimidine Metabolism in Man VIII. Advances in Experimental Medicine and Biology, vol 370. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-2584-4_18
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DOI: https://doi.org/10.1007/978-1-4615-2584-4_18
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