신경학적 증상 없이 통풍성 관절염만으로 발현된 Lesch-Nyhan Syndrome 1례A Case of Lesch-Nyhan Syndrome Manifesting Only Chronic Gouty Arthritis without Neurologic Symptom
- Other Titles
- A Case of Lesch-Nyhan Syndrome Manifesting Only Chronic Gouty Arthritis without Neurologic Symptom
- Authors
- 여유미; 최은영; 윤혜진; 정소담; 김담; 이승훈; 주경빈; 전재범
- Issue Date
- Oct-2014
- Publisher
- 대한류마티스학회
- Keywords
- Lesch-Nyhan; HPRT; Secondary gout
- Citation
- 대한류마티스학회지, v.21, no.4, pp.192 - 195
- Indexed
- KCI
- Journal Title
- 대한류마티스학회지
- Volume
- 21
- Number
- 4
- Start Page
- 192
- End Page
- 195
- URI
- https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/158929
- DOI
- 10.4078/jrd.2014.21.4.192
- ISSN
- 2093-940X
- Abstract
- Deficiency of hypoxanthine-guanine phosphoribosyltransferase 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 phosphoribosyltransferase mutation and Lesch-Nyhan sydrome, who manifested gouty arthritis without neurologic symptom.
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