Lesch-Nyhan 증후군 환자의 경피적 신쇄석술을 위한 전신마취경험

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. KCI Citation Count: 1