Abstract: TH-PO611

A Case of Lesch-Nyhan Syndrome in an Adult Presenting with AKI

Session Information

Category: Nephrology Education

  • 1302 Fellows and Residents Case Reports

Author

  • Cho, A young, Presbyterian Medical Center, Jeonju, Korea (the Republic of)
Background

Lesch-Nyhan syndrome (LNS) is a rare X-linked disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HPRT) and underlying HPRT gene mutations. When the enzyme HPRT is nonfunctional, substrates accumulate and are converted to uric acid by the action of xanthine-oxidase. LNS diagnosis is based on clinical symptoms and hyperuricemia, together with neurological evaluation of mental function, molecular testing for pathogenic mutations, and enzymatic analysis for HPRT function.

Methods

We report a case of LNS in a 26-year-old man, who presented with acute kidney injury and excessive hyperuricemia. He had a 7-year history of gout. He had tophectomy for gouty arthritis on left ankle 3 months ago and was taking aceclofenac (NSAID) from then on. He had a 3-year history of dystonia. Mutation analysis and enzyme assay revealed a mutation of exon 3 of the HPRT gene (c.295T>G (p.Phe99Val)) and total deficient HPRT confirming the diagnosis of LNS. His renal function and serum uric acid level improved after hydration and allopurinol treatment.

Conclusion

The diagnosis of LNS in adults is extremely rare. We report a case of LNS in a 26-year old man, who presented with acute kidney injury and excessive hyperuricemia, with molecular diagnosis.