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: Persephone Augoustides-Savvopoulou, Fotis Papachristou, Lynette D Fairbanks, Kostas Dimitrakopoulos, Anthony M Marinaki, H Anne Simmonds
• Journal: Pediatrics (Pediatrics) Vol. 109 Issue 1 Pg. E17 (Jan 2002) ISSN: 1098-4275 [Electronic] United States
• PMID: 11773585 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Uric Acid

Topics

• Adolescent
• Erythrocytes (chemistry)
• Humans
• Kidney Failure, Chronic (genetics, prevention & control)
• Lesch-Nyhan Syndrome (complications, diagnosis, therapy)
• Male
• Nuclear Family
• Pedigree
• Uric Acid (analysis)
• Urinary Calculi (chemistry, etiology)