신경학적 증상 없이 통풍성 관절염만으로 발현된 Lesch-Nyhan Syndrome 1례
- Title
- 신경학적 증상 없이 통풍성 관절염만으로 발현된 Lesch-Nyhan Syndrome 1례
- Author
- 이승훈
- Keywords
- Lesch-Nyhan; HPRT; Secondary gout
- Issue Date
- 2014-08
- Publisher
- 대한류마티스학회
- Citation
- Journal of Rheumatic Diseases, 2014, 21(4), P.192-195
- Abstract
- 저자들은 신경학적 증상 없이 통풍관절염만으로 발현한 HPRT 완전 결핍의 증례를 경험하였기에 이를 보고하는 바이다. 뚜렷한 원인이 없는 젊은 나이의 통풍 환자에서는 혈중 및 소변의 요산 농도 측정과 함께 드물지만 HPRT결핍의 가능성에 대하여 적극적인 문진과 진단적 접근이 필요하겠다. 더불어 유전자 결핍의 정도와 신경학적 증상간의 관계에 대한 연구가 더욱 필요할 것이라고 사료된다. Deficiency of hypoxanthine-guanine phosphoribosyltrans-ferase is a purine nucleotide disorder and is the most common genetic cause of uric acid overproduction. This disease has a wide range of spectrum with regard to neurological features depending on the extent of the enzymatic deficiency. Complete deficiency of hypoxanthine-guanine phosphoribosyltransferase, called Lesch-Nyhan syndrome, is presented with hyperuricemia and characteristic neurological manifestation and self-mutilation. Partial hypoxanthine-guanine phosphoribosyltransferase--deficient patients are presented with a various intensities of the aforementioned symptoms, from almost normal neurologic manifestation to a severe form along with hyperuricemia. We report a twenty-year-old man with complete hypoxanthine- guanine phosphoribosyltrans-ferase mutation and Lesch-Nyhan sydrome, who manifested gouty arthritis without neurologic symptom.
- URI
- https://synapse.koreamed.org/DOIx.php?id=10.4078/jrd.2014.21.4.192http://hdl.handle.net/20.500.11754/54300
- ISSN
- 2093-940X; 2233-4718
- DOI
- 10.4078/jrd.2014.21.4.192
- Appears in Collections:
- COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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