Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale.
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.
Augoustides-Savvopoulou
Persephone
P
Pediatric Department, Hippocration General Hospital, Thessaloniki, Greece. persefon@med.auth.gr
Papachristou
Fotis
F
Fairbanks
Lynette D
LD
Dimitrakopoulos
Kostas
K
Marinaki
Anthony M
AM
Simmonds
H Anne
HA
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
D014527:Uric Acid