Autosomal dominant transmission ofgoutyarthritis withrenal disease ina large Japanesefamily

Sixgenerations ofa Japanese family had goutyarthritis andprogressive nephropathy. Dataonnineof51women(18%) and15of66 men(23%) witheither asymptomatic hyperuricaemia, goutyarthritis, orrenalinsufficiency wereobtained. Renal function infour menandonewomanwithhyperuricaemia or goutyarthritis wasalsoexamined. Urinary excretion ofuricacidwasdecreased in allsubjects examined, including theyoung. Erythrocyte phosphoribosylpyrophosphate synthetase andhypoxanthine-guanine phosphoribosyltransferase activities determined in 10patients werenormal. Somepatients had beentreated withaliopurinol toreduce serum uricacidconcentrations, butthetreatment didnotprevent progression ofrenal impairment.Transmission ofthedisease inthis large family isconsidered tobeautosomal dominant. Thedatasuggest that thedisease inthisfamily isthesameentity asthat described byother workers-that is,familial uratenephropathy. Asfarasisknownthis is thelargest family withthisdisease sofar reported.