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권병운 ( Byung Won Kwon ),현경희 ( Kyung Hee Hyun ),한진형 ( Jin Hyung Han ),김소미 ( So Mi Kim ),이상석 ( Sang Seok Lee ),추영광 ( Young Kwang Choo ),이은경 ( Eun Kyoung Lee ) 대한신장학회 2009 Kidney Research and Clinical Practice Vol.28 No.1
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.