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.

Diseases

Cystinosis
Cystinosis is the most common cause of hereditary proximal tubular damage, also called Fanconi syndrome.
Dent disease
Along with pathognomonical signs as hypercalciuria, LMW proteinuria, and nephrocalcinosis infrequently other signs of proximal tybular damage (Fanconi) can be found.
Endocytotic disturbances of proximal tubular function
With endocytotic disturbances of proximal tubule the Fanconi syndrome is dominated by massive pro6teinuria.
Fanconi-Bickel syndrome
Fanconi syndrome was the general term describing all diseases with procimal tubular damage until distinct diseases have been characterized.
Fructose intolerance
Fructose intolerance causes unspecific proximal tubular damage called renotubular Fanconi syndrome.
Galactosemia
Renal manifestation of galactosemia is a renotubular Fanconi syndrome.
Hepatorenal tyrosinemia
Renal manifestation of the hepatorenal tyrosinemia is a renotubular Fanconi syndrome.
Renal tubular acidosis with arthrogryposis
Renal tubular acidosis in ARC syndrome is part of the Fanconi syndrom and therefore proximal.
Glycogen storage disease 1A
Renal manifestation of a von Gierke disease includes a renotubular Fanconi syndrome and glomerulosclerosis.
Update: June 23, 2016