The Genetics of Renal Excretion of Urate in Man

Abstract

Several studies have shown that hyperuricaemia tends to occur in families and this has been attributed to both inherited and acquired factors (1). However, except in over-producers such as patients with deficiency of hypoxanthine-guanine phosphoribosyltransferase, the precise mechanism whereby the genetic factor determining hyperuricaemia is manifest has not been defined. It is becoming increasingly clear, however, that defective excretion of urate by the kidney is one of the most important and frequent contributors to gout (2). This could be demonstrated either by a reduced urate clearance or by a reduced fractional excretion of urate (FE urate), so that excreted urate would comprise a smaller proportion of filtered urate than normal. Some family studies (3) have shown significant correlations between these components in patients with gout and their relatives. However, this type of study cannot exclude environmental influences on the serum urate concentration, particularly those introduced by a common diet.