Abstract:

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 COL4A5 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.