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Korean Journal of Anesthesiology 2007;53(4):520-523.
DOI: https://doi.org/10.4097/kjae.2007.53.4.520   
Anesthetic Experience of Percutaneous Nephrolithotomy for Renal Calculi in a Patient with Lesch-Nyhan Syndrome: A case report.
In Gu Jun, Ji Hyun Chin, Young Kug Kim, Young Uk Kim, Sung Kang Cho, Gyu Sam Hwang, Jai Hyun Hwang
Department of Anesthesiology and Pain Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. kyk@amc.seoul.kr
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.
Key Words: Lesch-Nyhan syndrome; percutaneous nephrolithotomy; renal calculi


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