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64岁女性,四肢乏力4年,水肿1周人院。临床表现大量蛋白尿,低白蛋白血症,伴低钾、低镁血症,代谢性碱中毒,低尿钙;血浆肾素活性增高,高醛固酮血症;肾活检病理提示肾小球足细胞病变,一处可疑肾小球旁器肥大。基因筛查显示COL4A5基因突变(823C>G)伴UMOD基因突变(1653G>C),而SLC12A1、KCNJ1、CLCNKB和BSND及SLC12A3基因均未见异常。综合患者临床表现与实验室检查最后诊断为肾小球足细胞病伴失盐性肾小管疾病。
64-year-old female, limb weakness for 4 years, edema 1 week hospital. Clinical manifestations of a large number of proteinuria, hypoalbuminemia, with hypokalemia, hypomagnesemia, metabolic alkalosis, low urinary calcium; plasma renin activity increased, hyperaldosteronism; renal biopsy prompted glomerular podocytes Lesions, a suspected glomerular bypass device hypertrophy. Genetic screening revealed a mutation in COL4A5 gene (823C> G) with UMOD gene mutation (1653G> C), while no abnormalities were found in SLC12A1, KCNJ1, CLCNKB, and BSND and SLC12A3 genes. Comprehensive clinical manifestations and laboratory tests were finally diagnosed as glomerular podocyte disease with salt-induced tubular disease.