title: Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale.
abstract: Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is an X-linked defect of purine metabolism. Clinical manifestations are usually related to the degree of enzyme deficiency: complete HPRT deficiency (Lesch-Nyhan syndrome) presenting with severe neurologic or renal symptoms, or partial HPRT deficiency (Kelley-Seegmiller syndrome) manifesting as a gout-urolithiasis syndrome. A 3-generation kindred is described in which the recognition of partial HPRT deficiency in 2 adolescent male siblings presenting with uric acid lithiasis led to the diagnosis in 2 maternal uncles already in renal failure of unknown cause. This report highlights the importance of clinical awareness leading to early diagnosis, appropriate diagnostic methodology, and therapy of a treatable inherited disorder of purine metabolism for the prevention of renal failure.
authors.affiliation: Pediatric Department, Hippocration General Hospital, Thessaloniki, Greece. persefon@med.auth.gr
authors.forename: Persephone
authors.initials: P
authors.lastname: Augoustides-Savvopoulou
authors.forename: Fotis
authors.initials: F
authors.lastname: Papachristou
authors.forename: Lynette D
authors.initials: LD
authors.lastname: Fairbanks
authors.forename: Kostas
authors.initials: K
authors.lastname: Dimitrakopoulos
authors.forename: Anthony M
authors.initials: AM
authors.lastname: Marinaki
authors.forename: H Anne
authors.initials: HA
authors.lastname: Simmonds
mesh_terms: D000293:Adolescent; D004912:Erythrocytes / Q000737:chemistry; D006801:Humans; D007676:Kidney Failure, Chronic / Q000235:genetics* / Q000517:prevention & control*; D007926:Lesch-Nyhan Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D008297:Male; D009679:Nuclear Family; D010375:Pedigree; D014527:Uric Acid / Q000032:analysis; D014545:Urinary Calculi / Q000737:chemistry / Q000209:etiology
chemical_list: D014527:Uric Acid