目的 分析Lesch-Nyhan综合征的临床特征及HPRT1基因变异特点，以提升对该病的认识。方法 回顾性分析2015年7月至2019年11月诊断并随访的8例患儿的临床表现、实验室检查及基因检测结果，总结患儿的临床特征及HPRT1基因变异特点。结果 8例患儿均为男性，于3月龄至11月龄起病，主因发育落后就诊，同时有锥体系及锥体外系症状，4例在就诊前已出现自残行为，4例目前尚未出现自残行为，血清尿酸不同程度增高。HPRT1基因检测出6种变异（c.609+5G>A、exon 2-3 del、c.131G>A、exon7-8 del、c.384+2T>A、c.212G>A）。经口服碳酸氢钠片、别嘌呤醇片、巴氯芬及家庭康复等治疗后，5例患儿脑损伤症状缓解，1例窒息死亡，1例死于肺部感染，1例未规律服药和复查，病情加重。结论 Lesch-Nyhan综合征患者的临床症状轻重不一，主要临床特征为神经系统功能障碍、自残行为、高尿酸血症，基因测序是确诊的关键，对症治疗可改善症状。

Objective To analyze the clinical features and HPRT1 gene variation characteristics of Lesch-Nyhan syndrome in children and to improve the understanding for the disease. Methods The clinical manifestations, laboratory examination and genetic test results of 8 children diagnosed with Lesch-Nyhan syndrome and followed up from July 2015 to November 2019 were retrospectively analyzed, and the clinical characteristics and HPRT1 gene variation characteristics of the children were analyzed and summarized. Results All the 8 patients were male, and the onset of disease was from 3 months to 11 months old. The patients mainly visited because of developmental retardation, accompanied by pyramidal and extrapyramidal symptoms. Four patients had self-mutilation behavior before seeing a doctor, another 4 patients did not have at present, and the blood uric acid increased in different degrees. Six variations (c.609+5G>A, exon 2-3 del, c.131G>A, exon7-8 del, c.384+2T>A and c.212G>A) were detected in their HPRT1 gene. After oral sodium bicarbonate, allopurinol and baclofen and home-based rehabilitation, the symptoms of brain injury were relieved in 5 patients. One patient died of asphyxia, 1 died of pulmonary infection, and 1 was aggravated without regular medication and reexamination. Conclusions The clinical symptoms of Lesch Nyhan syndrome are complex. The main characteristics are nervous system dysfunction, self-mutilation behavior and hyperuricemia. Gene sequencing is the key to diagnosis. Symptomatic treatment can improve symptoms of the patients.