肾病综合征、低钾、代谢性碱中毒

Nephrotic syndrome with hypokalaemia and metabolic alkalosis

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。

A 64-year-old woman was referred to our hospital due to muscular weakness for four years and episodes of edema for one week. Laboratory tests showed macroalbuminuria, hypoalbuminemia, hypokalaemia, hypomagnesaemia, hypocalciuria, metabolic alkalosis, hyperreninemia, and hyperaldosteronism. Her renal biopsy revealed podocytopathy with hyperplasia of the juxtaglomerular apparatus. Genetic testing was performed and heterozygous mutations were found in UMOD and COIAA5 gene rather than SLC12A1, KCNJ1, CLCNKB, BSND and SLC12A3 gene. The final diagnosis for this patient was podocytopathy and salt-losing tubulopathy. We discuss the association of mutation in the UMOD and COL4A5 gene with glomerular proteinuria and salt-losing tubulopathies.