Lesch-Nyhan syndrome.
Three cases of severe involvement of the kidney with calculi in patients with the Lesch-Nyhan syndrome are presented. Two patients have radiolucent uric acid calculi. The biochemistry and pathology of the Lesch-Nyhan syndrome is discussed. Mechanisms in one family is traced over five generations. Although this syndrome is rare, the possibility of its existence must be entertained in patients with retardation and arthritis.
D002648:Child; D005817:Genetic Counseling; D005845:Georgia; D006801:Humans; D007669:Kidney Calculi / Q000000981:diagnostic imaging* / Q000601:surgery; D007682:Kidney Pelvis / Q000000981:diagnostic imaging; D007926:Lesch-Nyhan Syndrome / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics; D008297:Male; D009392:Nephrectomy; D010375:Pedigree; D014547:Urinary Diversion; D014567:Urography