|
KMID : 0359920090280010058
|
|
Korean Journal of Nephrology
2009 Volume.28 No. 1 p.58 ~ p.62
|
|
|
A Case of Lesch-Nyhan Disease Manifesting Gouty Arthritis without Self-mutilation
|
|
Kwon Byung-Woon
Hyun Kyung-Hee
Han Jin-Hyung
Kim So-Mi
Lee Sang-Seok
Choo Young-Kwang
Lee Eun-Kyoung
|
|
|
Abstract
|
|
|
|
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.
|
|
|
KEYWORD
|
|
|
Lesch-Nyhan, Hypoxanthine-guanine phosphoribosyltransferase (HPRT), Gout, Self-mutilation
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
  
|