Korean Journal of Nephrology 2009;28(1):58-62.
A Case of Lesch-Nyhan Disease Manifesting Gouty Arthritis without Self-mutilation
Byung Woon Kwon, M.D., Kyung Hee Hyun, M.D., Jin Hyung Han, M.D., So Mi Kim, M.D., Sang Seok Lee, M.D., Young Kwang Choo, M.D. and Eun Kyoung Lee, M.D.
Department of Internal Medicine, College of Medicine, Dankook University, Cheonan, Korea
증례 : 뚜렷한 신경학적 증상 없이 통풍성 관절염만으로 발현된 hypoxanthine-guanine phosphoribosyltransferase (HPRT) 완전 결핍증 (Lesch-Nyhan 병) 1례
권병운, 현경희, 한진형, 김소미, 이상석, 추영광, 이은경
단국대학교 의과대학 내과학교실
Lesch-Nyhan disease is a very rare X-linked recessive disorder characterized by mental retardation, spasticity resembling cerebral palsy, choreoathetosis, self-mutilation and hyperuricemia. Self-mutilative behavior is a hallmark of the disease. The underlying defect is a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT). We report on a fourteen-year-old boy, who manifested gouty arthritis and mild renal insufficiency with Lesch-Nyhan disease, lacking self-mutilative behavior in spite of undetectable HPRT activity. Though there were several reports about some cases of Lesch-Nyhan disease in the past Korean literature, the cases were classic forms with definite neurological manifestation. As far as we know, this is the first case of Lesch-Nyhan disease without self-mutilation in Korea.
Key Words: Lesch-Nyhan, Hypoxanthine-guanine phosphoribosyltransferase (HPRT), Gout, Self-mutilation
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