穆攀伟 林可意 赵鑫 曾龙驿

【摘要】目的探讨常见的痛风基因在痛风中的作用。方法报道1例同时具有3个基因异常的严重痛风患者，并以 “ABCG2”“SLC2A9”“SLC22A12”“MTHFR”分别与“痛风/gout”或“高尿酸血症/hyperuricemia”组合作为关键词，在中国期刊全文数据库（CNKI）、万方数据知识服务平台、维普中文科技期刊数据库和Pubmed进行检索，收集并分析检索到的相关文献。结果该例为29岁男性患者，具有脊柱和全身多关节痛风石，基因检测发现其同时存在ABCG2、SLC2A9和SLC22A12的异常变异，具体表现为ABCG2：421 C>A（rs2231142）；SLC2A9：881 G>A（rs3733591）；SLC22A12：831-192 C>A（rs893006）。文献检索结果显示，ABCG2和痛风/高尿酸血症英文文献137篇、中文文献11篇，SLC2A9和痛风/高尿酸血症英文文献138篇、中文文献8篇，SLC22A12和痛风/高尿酸血症英文文献139篇、中文文献4篇，MTHFR和痛风/高尿酸血症英文文献11篇、中文文献5篇。尚无报道同时具有ABCG2、SLC2A9和SLC22A12 3个基因异常的病例。结论遗传因素在痛风和高尿酸血症中起着非常重要的作用，对于严重痛风患者应该及时进行基因检测。

【关键词】痛风；基因变异；ABCG2基因；SLC2A9基因；SLC22A12基因；MTHFR基因

【Abstract】ObjectiveTo investigate the role of common genes associated with gout. MethodsOne case of serious gout with three genetic variations was reported. Literature review was performed in three Chinese databases （CNKI， Wanfang data and Chongqing Vip database） and PubMed using “ABCG2”， “SLC2A9”， “SLC22A12”，“MTHFR” in combination with gout or hyperuricemia as the keywords in both Chinese and English. Relevant literatures were retrieved and analyzed. ResultsA 29-year old male patient presented with tophi in his spine and intra-articular gouty tophi in multiple joints. Genetic testing detected abnormal genetic variations in ABCG2， SLC2A9 and SLC22A12 genes， which presented with 421 C>A （rs2231142） in ABCG2， 881 G>A （rs3733591） in SLC2A9 and 831-192 C>A （rs893006） in SLC22A12， respectively. Literature review retrieved 137 articles in English and 11 articles in Chinese analyzing the relationship between ABCG2 and gout/hyperuricemia， 138 articles in English and 8 articles in Chinese related to the correlation between SLC2A9 and gout/hyperuricemia， 139 articles in English and 4 articles in Chinese on SLC22A12 and gout/hyperuricemia， and 11 articles in English and 5 articles reporting the association between MTHFR and gout/hyperuricemia. No case with simultaneous three genetic variations has been reported. ConclusionsHereditary factors play a crucial role in gout and hyperuricemia. Genetic detection is required for patients with severe gout.

【Key words】Gout； Genetic variation； ABCG2 gene； SLC2A9 gene； SLC22A12 gene； MTHFR gene高尿酸血癥和痛风已成为关节炎的常见病因，是代谢综合征、2型糖尿病、高血压病、冠状动脉粥样硬化性心脏病（冠心病）、慢性肾脏病等疾病的独立危险因素，其发病率不断上升且有年轻化的趋势，应该引起足够的重视[1]。遗传因素影响高尿酸血症和痛风的全过程，对相关基因及其调控的研究已逐渐成为研究热点。我科收治了1例严重痛风患者，该患者存在脊柱和全身多关节痛风石，对其进行4个常见相关基因（ABCG2、SLC2A9、SLC22A12和MTHFR）的检测，发现其同时存在3个基因的变异。现将该例报道……