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Nephropathy, Familial Juvenile Hyperuricemic

Synonyms

Familial juvenile gout; Hereditary nephropathy with hyperuricemia and gout; FJHN

Definition and Characteristics

Autosomal dominant renal transport defect leading to hyperuricemia associated with a grossly reduced fractional uric acid clearance (FEur = uric acid clearance factored by creatinine clearance ×100) of 5.1 ± 1.6% irrespective of age or sex, which precedes deterioration in renal function (Fig. 1).
Nephropathy, Familial Juvenile Hyperuricemic. Figure 1 Reduced fractional excretion of uric acid is the biochemical hallmark of FJHN. In the normal kidney, approximately 90% of uric acid is reabsorbed leaving a fraction of 10% excreted. In FJHN, the fraction of uric acid excreted is reduced to 5%, setting plasma uric acid levels abnormally high.

Prevalence

Rare, but an EU database records 113 patients found mainly in two countries (GB 90, CZ 19), indicating