肾性低尿酸血症并反复急性肾损伤1例并文献复习  

Idiopathic renal hypouricemia combined with repeated acute kidney injury:A case report and literature review

作　　者：张慧[1] 张文博 梁文琪 霍延红 Zhang Hui;Zhang Wenbo;Liang Wenqi;Huo Yanhong(Department of Nephrology,the First Medical Center,Chinese PLA General Hospital,Department of Nephrology,the Seventh Medical Center,Chinese PLA General Hospital,Beijing 100700,China)

机构地区：[1]解放军总医院第一医学中心肾脏病医学部,解放军总医院第七医学中心肾脏病科,北京100700

出　　处：《临床荟萃》2025年第2期168-171,共4页Clinical Focus

摘　　要：目的探讨特发性肾性低尿酸血症(idiopathic renal hypouficemia,iRHUC)的临床特征及诊疗思路。方法回顾性分析1例两次发生运动诱发的急性肾损伤(exercise-induced acute kidney injury,EIAKI)、最终通过基因检测确诊为iRHUC患者的病历资料,分析其临床特征、诊疗思路及预后,并结合相关文献进行复习。结果1名23岁男性患者,两次在剧烈运动后发生急性肾损伤(acute kidney injury,AKI),肾功能恢复正常但持续存在低尿酸血症,尿酸排泄分数(fractional excretion of uric acid,FEUA)明显升高,全外显基因检测示SLC22A12基因纯合突变,最终确诊为iRHUC。结论iRHUC临床诊断病例不多,临床医生需加强对该病的认识,避免漏诊、误诊,以指导治疗和预防并发症。Objective To investigate the clinical characteristics and diagnostic and treatment of idiopathic renal hypouricemia(iRHUC).Methods Clinical data of a patient who suffered from exercise-induced acute kidney injury(EIAKI)twice and was finally diagnosed with iRHUC by genetic testing were retrospectively collected.The clinical characteristics,diagnostic process,treatment options and prognosis were analyzed,and the relevant literatures were reviewed.Results A 23-year-old man suffered from acute kidney injury(AKI)twice after intensive exercise.The renal function returned to normal but hypouricemia persisted.Fractional excretion of uric acid(FEUA)was significantly elevated.The mutational analysis revealed a homozygous mutation in the SLC22A12 gene,and he was finally diagnosed with iRHUC.Conclusion iRHUC cases are not commonly reported,and we should strengthen our understanding of the disease to avoid missed diagnosis and misdiagnosis,so as to guide treatment and prevent complications.

关 键 词：急性肾损伤 肾性低尿酸血症 SLC22A12 基因突变 

分 类 号：R692.5[医药卫生—泌尿科学]