单基因肾结石病基因治疗前景展望  

Prospects of gene therapy for monogenic nephrolithiasis

作　　者：田野[1] 李钧[1] 王小川 Tian Ye;Li Jun;Wang Xiaochuan(Department of Urology,Beijing Friendship Hospital,Capital Medical University,Beijing 100050,China)

机构地区：[1]首都医科大学附属北京友谊医院泌尿外科,北京100050

出　　处：《中华医学杂志》2021年第38期3045-3048,共4页National Medical Journal of China

摘　　要：单基因肾结石病虽在临床较为少见,但其逐年增加的发病率及对患者身心健康的影响足以引起重视。目前单基因肾结石病的治疗尚停留于药物及手术层面,本文以原发性高草酸尿症基因治疗的进展为切入点,对单基因肾结石病在病因学层面的治疗进行论述,以期推动更多基因治疗层面的研究和尝试,推动基因治疗方式和药物的研发与探索,推动单基因肾结石病精准化及个体的治疗模式的完善,进而提升该病的诊疗水平。Monogenic nephrolithiasis is comparatively rare in clinical practice,but its yearly increasing incidence and impacts on physical and mental health are worth wide attention.At present,management of monogenic nephrolithiasis are still the medication and surgery.This article regards the research progress on primary hyperoxaluria as the breakthrough point to review the etiological therapy of monogenic nephrolithiasis.We aim to promote more studies on other monogenic nephrolithiasis,more methods and drugs for gene therapy,precise and individualized treatment of monogenic nephrolithiasis,and thus to promote the prevention and treatment of monogenic nephrolithiasis in China.

关 键 词：泌尿系疾病 肾结石 单基因病 基因治疗 

分 类 号：R692.4[医药卫生—泌尿科学]