A Case of Lesch-Nyhan Syndrome Manifesting Only Chronic Gouty Arthritis without Neurologic Symptom
Journal of Rheumatic Diseases
;
: 192-195, 2014.
Artigo
em Coreano
| WPRIM
| ID: wpr-190178
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Ácido Úrico
/
Artrite Gotosa
/
Hiperuricemia
/
Hipoxantina Fosforribosiltransferase
/
Síndrome de Lesch-Nyhan
/
Manifestações Neurológicas
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
Idioma:
Coreano
Revista:
Journal of Rheumatic Diseases
Ano de publicação:
2014
Tipo de documento:
Artigo
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