Anesthetic Experience of Percutaneous Nephrolithotomy for Renal Calculi in a Patient with Lesch-Nyhan Syndrome - A case report -

Abstract

Lesch-Nyhan syndrome (LNS) is a rare, X-linked recessive inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine-phophoribosyltransferase, leading to excessive purine production and elevation of uric acid. Clinical manifestations include mental retardation, spasticity, choreathetosis, compulsive self-mutilation, renal calculi followed by obstructive nephropathy, and arthritis. Patient with LNS may have increased risk of aspiration pneumonia, acute renal failure and unexpected sudden death. We accomplished successful general anesthesia in a case of LNS requiring percutaneous nephrolithotomy due to renal calculi.

Semi-Fixed Lip Bumper in Lesch-Nyhan Syndrome: An Interim Treatment Modality

“…When treating the patients, several considerations such as a high probability of aspiration pneumonia should be considered. And the clinicians should be evaluate whether the drug to use affects acute renal failure or HPRT activity [11].…”