尿黑酸尿症伴IgA肾病1例并文献复习  

Alkaptonuria with IgA nephropathy:a case report and literature review

作　　者：阮颖新[1] 闫铁昆[1] 江建青[1] 贾俊亚[1] Ruan Yingxin;Yan Tiekun;Jiang Jianqing;Jia Junya(Department of Nephrology,General Hospital of Tianjin Medical University,Tianjin 300052,China)

机构地区：[1]天津医科大学总医院肾内科,天津300052

出　　处：《中华肾脏病杂志》2023年第8期624-627,共4页Chinese Journal of Nephrology

基　　金：科技部“十三五”国家重点研发计划重点专项(2019YFF0216502);天津市医学重点学科(专科)建设项目(TJYXZDXK-071C)。

摘　　要：该文报告1例罕见尿黑酸尿症(alkaptonuria,AKU)伴IgA肾病的病例,分析其临床表现、影像学表现、病理特点、基因诊断及治疗经过,为该病诊治提供参考。该患者的临床症状以尿液颜色发黑、镜下血尿及蛋白尿为主;肾脏病理提示轻度系膜增生型IgA肾病,肾小管上皮细胞色素沉积;基因检测提示在AKU相关的尿黑酸1,2-双氧化酶基因上检出与患者表型部分相关的1个致病变异。基因检测和肾脏病理是明确诊断该病例的有效方法。The paper reports a rare case of alkaptonuria(AKU)with IgA nephropathy,and analyzes its clinical manifestations,imaging findings,pathological features,gene diagnosis and treatment process,so as to provide reference for the diagnosis and treatment of the disease.The clinical symptoms of the patient were mainly black urine,microscopic hematuria and proteinuria.Renal pathology showed mild mesangial hyperplasia IgA nephropathy,and renal tubular epithelial cytochrome deposition.Genetic analysis indicated that a pathogenic mutation was detected on the AKU-related homogentisate 1,2-dioxygenase gene possibly associated with the phenotype of the patient.Genetic testing and renal pathology were effective methods to make a definite diagnosis for the case.

关 键 词：黑酸尿 肾小球肾炎 IgA 尿黑酸 尿黑酸1 2-双加氧酶基因 

分 类 号：R692.31[医药卫生—泌尿科学]