Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Proximal tubular damage syndrome

The syndrome of proximal tubular damage has been formerly called Fanconi syndrome. Now, two distinct diseases are characterized that have 'Fanconi' in their name: Fanconi renotubular syndrome and Fanconi-Bickel syndrome, so it seems more approriate to use the term 'syndrome of proximal tubular damage' to summarize symptoms that are caused by unspecific proximal tubular dysfunction and include proteinuria, aminoaciduria, renal tubular acidosis, phosphaturia, glucosuria and wastage of salt and water.

Clinical Findings

The clinical picture is dominated by secondary changes, such as proximal renal tubular acidosis, hypophosphatemic rickets, and nephrocalcinosis with or without nephrolithiasis.

Classification

We classify congenital or acquired, primary or secondary, complete or incomplete Fanconi syndrome.

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