Lesch-Nyhan综合征(下称LNS)是一种次黄嘌呤磷酸核糖转换酶(下称HGPRT)缺如的先天性代谢障碍疾病,以X-连锁方式隐性遗传。国外于1964年曾报道过一例。今将我院收治的一例,经用培养皮肤成纤维细胞的药物遗传性能测定而确诊的,兹报道于后。病例报告患者男性,15岁,因右膝红肿伴高热2月余而入院。3个月前因右足受伤感染后右膝逐渐红肿,体温达39℃左右,诊断为化脓性关节炎,经切开引流,排出大量脓液。术后创口未愈合,每日流出脓血10～20毫升。热未退尽,消瘦,胃纳极差。患者第五胎,第五产,足月,顺产,无黄疸史,无惊厥史。自幼于夏季发高热(>39℃),无汗,曾诊断为汗腺发育不良(无汗症)。迄今,每逢夏季须睡水泥地上或浸卧 Lesch-Nyhan syndrome (hereinafter referred to as LNS) is a congenital metabolic disorder in which hypoxanthine phosphoribosyltransferase (hereinafter referred to as HGPRT) is absent and is recessively inherited in an X-linked manner. Foreign cases were reported in 1964. This hospital will now be treated with an example of the use of cultured skin fibroblasts determined by the genetic properties of drugs and diagnosed, it is reported later. Case report Male patient, 15 years old, due to right knee redness with fever in February more than admitted. 3 months ago right knee injury after infection of the right foot gradually red and swollen, body temperature of about 39 ℃, diagnosed as suppurative arthritis, drainage and drainage, discharge large amounts of pus. Postoperative wounds healed, daily out of sepsis 10 to 20 ml. Heat is not exhausted, weight loss, poor appetite. Fifth child patients, the fifth production, full-term, natural delivery, no history of jaundice, no history of convulsions. He developed fever (> 39 ℃) in summer and no sweat. He has been diagnosed as sweat gland dysplasia (no sweat syndrome). So far, every summer to sleep on the concrete floor or lying