½Å°æÇÐÀû Áõ»ó ¾øÀÌ Åëdz¼º °üÀý¿°¸¸À¸·Î ¹ßÇöµÈ Lesch-Nyhan Syndrome 1·Ê
A Case of Lesch-Nyhan Syndrome Manifesting Only Chronic Gouty Arthritis without Neurologic Symptom
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¿©À¯¹Ì(Yeo Yoo-Mi) - ÇѾç´ëÇб³ ÀÇ°ú´ëÇÐ ³»°úÇб³½Ç
ÃÖÀº¿µ(Choi Eun-Young) - ÇѾç´ëÇб³ ÀÇ°ú´ëÇÐ ³»°úÇб³½Ç
À±ÇýÁø(Yoon Hye-Jin) - ÇѾç´ëÇб³ ÀÇ°ú´ëÇÐ ³»°úÇб³½Ç
Á¤¼Ò´ã(Jung So-Dam) - ÇѾç´ëÇб³ ÀÇ°ú´ëÇÐ ³»°úÇб³½Ç
±è´ã(Kim Dam) - ÇѾç´ëÇб³ ÀÇ°ú´ëÇÐ ³»°úÇб³½Ç
À̽ÂÈÆ(Lee Seung-Hun) - ÇѾç´ëÇб³ ÀÇ°ú´ëÇÐ ¿µ»óÀÇÇб³½Ç
ÁÖ°æºó(Joo Kyoung-Bin) - ÇѾç´ëÇб³ ÀÇ°ú´ëÇÐ ¿µ»óÀÇÇб³½Ç
ÀüÀç¹ü(Jun Jae-Bum) - ÇѾç´ëÇб³ ÀÇ°ú´ëÇÐ ³»°úÇб³½Ç
Abstract
Deficiency of hypoxanthine-guanine phosphoribosyltrans-ferase is a purine nucleotide disorder and is the most com-mon genetic cause of uric acid overproduction. This dis-ease has a wide range of spectrum with regard to neuro-logical 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 neuro-logical manifestation and self-mutilation. Partial hypo-xanthine-guanine phosphoribosyltransferase--deficient pa-tients are presented with a various intensities of the afore-mentioned symptoms, from almost normal neurologic manifestation to a severe form along with hyperuricemia. We report a twenty-year-old man with complete hypo-xanthine-guanine phosphoribosyltransferase mutation and Lesch-Nyhan sydrome, who manifested gouty arthritis without neurologic symptom.
Å°¿öµå
Lesch-Nyhan, HPRT, Secondary gout
KMID :
0388220140210040192
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