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Evaluation of the proximal tubular function in hereditary renal Fanconi syndrome.

The study of the proximal tubular function in inherited renal Fanconi syndrome offers a unique opportunity to augment insights in proximal tubular transport and signalling pathways and allows a better interpretation of tests applied for the evaluation of proximal tubular function in acquired disorders. The causes of inherited and acquired renal Fanconi syndrome are listed in Table 1. It is a common practice to evaluate proximal tubular function by measuring the reabsorption of low-molecular-weight proteins (LMWP) and the excretion of lysosomal enzymes. New information became available due to extensive studies performed in Dent’s disease, nephropathic cystinosis, Lowe syndrome and idiopathic Fanconi syndrome. Here we focus on the results obtained in these disorders.