胱氨酸结石诊疗新进展  

Novel advances in diagnosis and treatment of cystine calculi

作　　者：张国庆[1] 印胡滨 朱鑫[1] 欧阳洁 邹忠林 邓远忠[1] ZHANG Guoqing;YIN Hubin;ZHU Xin;OU Yangjie;ZOU Zhonglin;DENG Yuanzhong(Department of Urology,First Affiliated Hospital of Chongqing Medical University,Chongqing,400016,China)

机构地区：[1]重庆医科大学附属第一医院泌尿外科,重庆400016

出　　处：《临床泌尿外科杂志》2023年第7期557-561,共5页Journal of Clinical Urology

摘　　要：胱氨酸尿症作为一种常染色体隐性遗传性疾病,是胱氨酸结石最常见的病因,具有发病时间早,进展快速的特点。部分病例早期即合并急性肾功能不全或衰竭。目前最新的检测方式包括衰减全反射-傅里叶变换红外光谱(ATR-FTIR)联合高效液相色谱结合荧光检测(HPLC-FL)、新型苯并咪唑探针和便携式荧光仪等具有高特异度的方法。最新的治疗包括胱氨酸晶体抑制剂、重组酶修复蛋白错误折叠、补硒辅助抑制胱氨酸结晶形成以及基因治疗等。在发达国家已经形成胱氨酸尿症的规范化治疗,但在我国目前针对胱氨酸结石的规范化诊疗仍然不尽如人意。本文就胱氨酸结石的最新诊疗进展进行阐述与总结。Cystinuria,an autosomal recessive disorder,is the most common cause of cystine calculi and is characterized by early onset and rapid progression.Acute renal insufficiency or failure at an early stage has been observed in some patients.The latest detection methods include attenuated total reflection-Fourier transform infrared spectroscopy(ATR-FTIR)combined with high-performance liquid chromatography coupled with fluorescence detection(HPLC-FL),novel benzimidazole probes,and portable fluorometry with high specificity.The newest strategies include cystine crystal inhibitors,recombinant enzymes to repair protein misfolding,selenium supplementation for inhibiting cystine crystal formation,as well as gene therapy.Standardized treatment of cystinuria has been well-established in developed countries,but that of cystine stones has been still unsatisfied in China.The latest advances in the treatment of cystine stones are described and summarized in the manuscript.

关 键 词：胱氨酸尿症 胱氨酸结石 

分 类 号：R691.4[医药卫生—泌尿科学]